View unique variants   Search unique variants View all contents   Full database search Variant listing based on patient origin Database statistics   Switch gene
LOVD - Variant listings for RPL5

Unhide all columns | Hide Specific Columns | Hide all columns
About this overview [Show]

59 public entries
entries per page

Path. Hide Path. column Descending
Ascending
Exon Hide Exon column Descending
Ascending
DNA change   Descending
Ascending
RNA change Hide RNA change column Descending
Ascending
Protein Hide Protein column Descending
Ascending
Frequency Hide Frequency column Descending
Ascending
DB-ID Hide DB-ID column Descending
Ascending
Location Hide Location column Descending
Ascending
Remarks Hide Remarks column Descending
Ascending
Molecula Mechanisms Hide Molecula Mechanisms column Descending
Ascending
Patient ID Hide Patient ID column Descending
Ascending
Gender Hide Gender column Descending
Ascending
Malformations Hide Malformations column Descending
Ascending
Growth Retardation Hide Growth Retardation column Descending
Ascending
Steroid Response Hide Steroid Response column Descending
Ascending
Complications Hide Complications column Descending
Ascending
Variant Origin Hide Variant Origin column Descending
Ascending
Reference Hide Reference column Descending
Ascending
Template Hide Template column Descending
Ascending
Technique Hide Technique column Descending
Ascending
Remarks Hide Remarks column Descending
Ascending
# Reported Hide # Reported column Descending
Ascending
+/+ 01 c.1A>G - p.Met1? - RPL5_00037 - Missense mutation transition pat1rpl500037 f Triphalangeal thumb na na - sporadic?(parents not tested) U. Ramenghi, Dept. Pediatrics Università di Torino DNA SEQ - 1
+/+ 01 c.2T>G - p.Met1Arg - RPL5_00030 - Missense mutation transition pat1rpl500030 f Duplicated ureter yes yes - familial H. Gazda, Children's Hospital Boston DNA SEQ - 1
+/+ 01 c.2T>G - p.Met1Arg - RPL5_00030 - Missense mutation transition pat2rpl500030 m Heart Murmur yes yes - familial H. Gazda, Children's Hospital Boston DNA SEQ - 1
+/+ 01 c.3G>C - p.Met1? - RPL5_00001 - Missense mutation transversion pat1rpl500001 f None na yes - de novo, in patient Quarello et al (2009) Haematologica. 2009 Sep 22. [Epub ahead of print] DNA SEQ - 1
+/+ 02 c.39_40insT - p.Lys14X - RPL5_00007 - Insertion slippage pat1rpl500007 m Facial dysmorphisms, strabism na yes - de novo, in patient Quarello et al (2009) Haematologica. 2009 Sep 22. [Epub ahead of print] DNA SEQ - 1
+/+ 02 c.46_47insA - p.Tyr16X - RPL5_00016 - Insertion slippage pat1rpl500016 m Micrognathia, hypertelorism, soft cleft palate, triphalangeal right thumb, widened webbed spaced between first and second toes, hypospadias na na - sporadic?(parents not tested) Gazda et al (2008) Am J Hum Genet 83(6), 769-80 DNA SEQ - 1
+/+ 02 c.48C>A - p.Tyr16X - RPL5_00032 - Nonsense mutation transversion pat1rpl500032 m Cleft palate, abnormal right thumb yes yes - de novo, in patient H. Gazda, Children's Hospital Boston DNA SEQ - 1
+/+ 02 c.48C>G - p.Tyr16X - RPL5_00012 - Nonsense mutation transversion pat1rpl500012 f Not available na yes (to high doses only) - sporadic?(parents not tested) Gazda et al (2008) Am J Hum Genet 83(6), 769-80 DNA SEQ - 1
+/+ 02 c.67C>T - p.Arg23X - RPL5_00013 - Nonsense mutation CpG pat1rpl500013 f Cleft lip, cleft palate na yes - de novo, in patient Gazda et al (2008) Am J Hum Genet 83(6), 769-80 DNA SEQ - 1
+/+ 02 c.67C>T - p.Arg23X - RPL5_00013 - Nonsense mutation CpG pat2rpl500013 m Not available na na - sporadic?(parents not tested) H. Gazda, Children's Hospital Boston DNA SEQ - 1
+/+ 02 c.73+2T>G - p.0? - RPL5_00024 Intron 2 Donor splice site defect transversion pat1rpl500024 m None na yes - de novo, in patient Gazda et al (2008) Am J Hum Genet 83(6), 769-80 DNA SEQ - 1
+/+ 03 c.74-1G>A - p.0? - RPL5_00026 Intron 2 Acceptor splice site defect transition pat1rpl500026 m SGA, short stature, flat thenar na na - familial Cmejla et al (2009) Hum Mutat 30(3), 321-327 DNA SEQ - 1
+/+ 03 c.74-1G>A - p.0? - RPL5_00026 Intron 2 Acceptor splice site defect transition pat2rpl500026 f SGA, Short stature, flat thenar, microphthalmia na na - sporadic?(parents not tested) Cmejla et al (2009) Hum Mutat 30(3), 321-327 DNA SEQ - 1
+/+ 03 c.91delT - p.Tyr31MetfsX7 - RPL5_00036 - Deletion - pat1rpl500036 f Triphalangeal thumb na na - de novo, in patient U. Ramenghi, Dept. Pediatrics Università di Torino DNA SEQ - 1
+/+ 03 c.134_138delACACA - p.Asn45ThrfsX66 - RPL5_00003 - Deletion slippage pat1rpl500003 f Cleft lip, cleft palate, short stature na yes - de novo, in patient Quarello et al (2009) Haematologica. 2009 Sep 22. [Epub ahead of print] DNA SEQ missense mutation in RPS24 (pat1rps2400006 ) 1
+/+ 03 c.145dupT - p.Tyr49Leufs X64 - RPL5_00027 - Insertion slippage pat1rpl500027 f SGA, flat thenar, tetralogy of Fallot na na - sporadic?(parents not tested) Cmejla et al (2009) Hum Mutat 30(3), 321-327 DNA SEQ - 1
+/+ 03 c.156_159delAGTT - p.Arg54X - RPL5_00017 - Deletion - pat1rpl500017 f Small jaw, cleft palate, triphlangeal thumb, hip dysplasia, rib anomalies na yes - de novo, in patient Gazda et al (2008) Am J Hum Genet 83(6), 769-80 DNA SEQ - 1
+/+ 03 c.169_172delAACA - p.Asn57GlufsX12 - RPL5_00004 - Deletion slippage pat1rpl500004 m Myelomeningocele, cleft palate, facial dysmorphism na na - de novo, in patient Quarello et al (2009) Haematologica. 2009 Sep 22. [Epub ahead of print] DNA SEQ - 1
+/+ 03 c.169_172delAACA - p.Asn57GlufsX12 - RPL5_00004 - Deletion slippage pat2rpl500004 f Flat thenar eminence, grouped carpal bones, short stature na na - sporadic?(parents not tested) Quarello et al (2009) Haematologica. 2009 Sep 22. [Epub ahead of print] DNA SEQ - 1
+/+ 03 c.169_172delAACA - p.Asn57GlufsX12 - RPL5_00004 - Deletion slippage pat3rpl500004 m Partial anomalous pulmonary venous return na no - sporadic?(parents not tested) Gazda et al (2008) Am J Hum Genet 83(6), 769-80 DNA SEQ - 1
+/+ 03 c.169_172delAACA - p.Asn57GlufsX12 - RPL5_00004 - Deletion slippage pat4rpl500004 m SGA, flat thenar, facial dysmorphism na na - sporadic?(parents not tested) Cmejla et al (2009) Hum Mutat 30(3), 321-327 DNA SEQ - 1
+/+ 03 c.169_172delAACA - p.Asn57GlufsX12 - RPL5_00004 - Deletion slippage pat5rpl500004 f Cleft palate, ASD, webbed neck, widely spaced nipples yes na - sporadic?(parents not tested) H. Gazda, Children's Hospital Boston DNA SEQ - 1
+/+ 03 c.172_173insA - p.Arg58LysfsX55 - RPL5_00009 - Insertion slippage pat1rpl500009 m Cleft lip and palate, triphalangeal thumb, short stature na na - de novo, in patient U. Ramenghi, Dept. Pediatrics Università di Torino DNA SEQ - 1
+/+ 03 c.173 delG - p.Arg58LysfsX12 - RPL5_00019 - Deletion - pat1rpl500019 m Multiple congenital heart defects (small patent ductus arteriosus, mild mitral valve prolapse, mild mitral regurgitation) na yes - de novo, in patient Gazda et al (2008) Am J Hum Genet 83(6), 769-80 DNA SEQ - 1
+/+ 03 c.175_176delGA - p.Asp59TyrfsX53 - RPL5_00018 - Deletion slippage pat1rpl500018 f SGA, flat thenar, bifid thumb na na - sporadic?(parents not tested) Cmejla et al (2009) Hum Mutat 30(3), 321-327 DNA SEQ - 1
+/+ 03 c.175_176delGA - p.Asp59TyrfsX53 - RPL5_00018 - Deletion slippage pat2rpl500018 m Long proximal thumb phalanges bilateral, multiple congenital heart defects ( double outlet right ventricle, pulmonary stenosis, left pulmonary artery stenosis, patent ductus arteriosus) na na - sporadic?(parents not tested) Gazda et al (2008) Am J Hum Genet 83(6), 769-80 DNA SEQ - 1
+/+ 03 c.175_176delGA - p.Asp59TyrfsX53 - RPL5_00018 - Deletion slippage pat3rpl500018 m Small jaw, cleft palate, bronchiopharyngeal malacia, mild hydrocephalus na yes - sporadic?(parents not tested) Gazda et al (2008) Am J Hum Genet 83(6), 769-80 DNA SEQ - 1
+/+ 03 c.175_176delGA - p.Asp59TyrfsX53 - RPL5_00018 - Deletion slippage pat4rpl500018 f Not available na na - de novo, in patient Gazda et al (2008) Am J Hum Genet 83(6), 769-80 DNA SEQ - 1
+/+ 03 c.183_184delTT - p.Ile61MetfsX51 - RPL5_00005 - Deletion slippage pat1rpl500005 m Micrognathia, palpebral ptosis, cleft palate, triphalangeal thumb, brachydactyly, learning difficulties, atrial septal defect, aortic valve stenosis, short stature na na - de novo, in patient Quarello et al (2009) Haematologica. 2009 Sep 22. [Epub ahead of print] DNA SEQ - 1
+/+ 03 c.189+1G>A - p.0? - RPL5_00010 Intron 3 Donor splice site defect transition pat1rpl500010 m Short stature na no - sporadic?(parents not tested) Quarello et al (2009) Haematologica. 2009 Sep 22. [Epub ahead of print] DNA SEQ - 1
+/+ 03 c.189+1G>T - p.0? - RPL5_00025 Intron 3 Donor splice site defect transversion pat1rpl500025 m None na yes - sporadic?(parents not tested) Gazda et al (2008) Am J Hum Genet 83(6), 769-80 DNA SEQ - 1
+/+ 04 c.191_204insCTCTTACTATAGAT - p.Ile64LeufsX10 - RPL5_00035 - Insertion - pat1rpl500035 f Not available na na - de novo, in patient H. Gazda, Children's Hospital Boston DNA SEQ - 1
+/+ 04 c.208G>T - p.Glu70X - RPL5_00033 - Nonsense mutation transversion pat1rpl500033 f Not available na na - sporadic?(parents not tested) H. Gazda, Children's Hospital Boston DNA SEQ - 1
+/+ 04 c.228C>A - p.Cys76X - RPL5_00014 - Nonsense mutation transversion pat1rpl500014 f Cleft palate, ASD, hypoplastic thumb, micrognathia, tracheomalacia na yes (initially) - sporadic?(parents not tested) Gazda et al (2008) Am J Hum Genet 83(6), 769-80 DNA SEQ - 1
+/+ 04 c.235_236insT - p.Tyr79LeufsX34 - RPL5_00020 - Insertion slippage pat1rpl500020 f Cleft soft palate na no - familial Gazda et al (2008) Am J Hum Genet 83(6), 769-80 DNA SEQ - 1
+/+ 04 c.235_236insT - p.Tyr79LeufsX34 - RPL5_00020 - Insertion slippage pat2rpl500020 f None na na - sporadic?(parents not tested) Gazda et al (2008) Am J Hum Genet 83(6), 769-80 DNA SEQ - 1
+/+ 04 c.235_236insT - p.Tyr79LeufsX34 - RPL5_00020 - Insertion slippage pat3rpl500020 f Cleft palate, bifid uvula, hypoplastic thumb na na - familial Gazda et al (2008) Am J Hum Genet 83(6), 769-80 DNA SEQ - 1
+/+ 04 c.235_236insT - p.Tyr79LeufsX34 - RPL5_00020 - Insertion slippage pat4rpl500020 f None na na - sporadic?(parents not tested) Gazda et al (2008) Am J Hum Genet 83(6), 769-80 DNA SEQ - 1
+/+ 04 c.283delT - p.Tyr95MetfsX31 - RPL5_00038 - Deletion slippage pat1rpl500038 m Not available na na - sporadic?(parents not tested) U. Ramenghi, Dept. Pediatrics Università di Torino DNA SEQ - 1
+/+ 04 c.324+5G>T - p.0? - RPL5_00011 Intron 4 Donor splice site defect transversion pat1rpl500011 f Cleft palate, micrognathia, flat thenar eminence, persistent foramen ovale, facial dysmorphisms na na - de novo, in patient Quarello et al (2009) Haematologica. 2009 Sep 22. [Epub ahead of print] DNA SEQ - 1
+/+ 05 c.336delG - p.Arg112SerfsX14 - RPL5_00006 - Deletion slippage pat1rpl500006 f Cleft palate, micrognathia, triphalangeal thumb na yes - de novo, in patient Quarello et al (2009) Haematologica. 2009 Sep 22. [Epub ahead of print] DNA SEQ - 1
+/+ 05 c.347_348insTGGA - p.Lys117GlyfsX5 - RPL5_00021 - Insertion slippage pat1rpl500021 f Mandibular hypoplasia with retrognathia, cleft palate with bifid uvula, dysplastic thumbs, ASD type II na no - familial Gazda et al (2008) Am J Hum Genet 83(6), 769-80 DNA SEQ - 1
+/+ 05 c.347_348insTGGA - p.Lys117GlyfsX5 - RPL5_00021 - Insertion slippage pat2rpl500021 f Mandibular hypoplasia with retrognathia, cleft palate, triphalangeal thumbs, persistent foramen ovale, ASD type II na na - familial Gazda et al (2008) Am J Hum Genet 83(6), 769-80 DNA SEQ inferred mutation 1
+/+ 05 c.347_348insTGGA - p.Lys117GlyfsX5 - RPL5_00021 - Insertion slippage pat3rpl500021 f None na na - sporadic?(parents not tested) Gazda et al (2008) Am J Hum Genet 83(6), 769-80 DNA SEQ - 1
+/? 05 c.390C>G - p.Tyr130X - RPL5_00039 Exon Nonsense mutation transversion - m - - - - - Greece:ATHENS DNA SEQ Screening procedure ECMA (Enzymatic Mismatch Cleavage Analysis) (heteroduplex digestion with surveyor nuclease) 1
+/? 05 c.418G>A - p.Gly140Ser - RPL5_00015 - Missense mutation transition pat1rpl500015 m None na no - familial Gazda et al (2008) Am J Hum Genet 83(6), 769-80 DNA SEQ - 1
+/? 05 c.418G>A - p.Gly140Ser - RPL5_00015 - Missense mutation transition pat2rpl500015 m Not available na na - sporadic?(parents not tested) Gazda et al (2008) Am J Hum Genet 83(6), 769-80 DNA SEQ no anemia 1
+/+ 05 c.454delA - p.Arg152GlufsX12 - RPL5_00031 - Deletion - pat1rpl500031 m Dysmorphic face, VSD, cleft soft palate, triphalangeal thumbs, reflux of the left ureter yes yes - sporadic?(parents not tested) H. Gazda, Children's Hospital Boston DNA SEQ - 1
+/+ 05 c.[498_502delTGTGG;497_498ins40] - p.0? - RPL5_00022 - Insertion/Deletion - pat1rpl500022 m Triphalangeal thumbs, VSD na yes - de novo,germline mosaicism Gazda et al (2008) Am J Hum Genet 83(6), 769-80 DNA SEQ - 1
+/+ 05 c.[498_502delTGTGG;497_498ins40] - p.0? - RPL5_00022 - Insertion/Deletion - pat2rpl500022 m Cleft lip, triphalangeal thumbs na no - de novo,germline mosaicism Gazda et al (2008) Am J Hum Genet 83(6), 769-80 DNA SEQ - 1
+/+ 05 c.[498_502delTGTGG;497_498ins40] - p.0? - RPL5_00022 - Insertion/Deletion - pat3rpl500022 f Not available na na - familial Gazda et al (2008) Am J Hum Genet 83(6), 769-80 DNA SEQ - 1
+/+ 06 c.535C>T - p.Arg179X - RPL5_00034 - Nonsense mutation CpG pat1rpl500034 m Cleft lip, abnormality of bilateral second toe, aortic valve defect yes no - sporadic?(parents not tested) H. Gazda, Children's Hospital Boston DNA SEQ - 1
+/+ 06 c.535C>T - p.Arg179X - RPL5_00034 - Nonsense mutation CpG pat2rpl500034 f Not available na na - sporadic?(parents not tested) U. Ramenghi, Dept. Pediatrics Università di Torino DNA SEQ - 1
+/+ 06 c.565delG - p.Glu189AsnfsX23 - RPL5_00028 - Deletion slippage pat1rpl500028 m Flat thenar na na - sporadic?(parents not tested) Cmejla et al (2009) Hum Mutat 30(3), 321-327 DNA SEQ - 1
+/+ 06 c.573_574insG - p.Ala192GlyfsX25 - RPL5_00023 - Insertion slippage pat1rpl500023 m Inability to flex right distal thumb phalanx na yes - sporadic?(parents not tested) Gazda et al (2008) Am J Hum Genet 83(6), 769-80 DNA SEQ - 1
+/+ 06 c.[678C>A; 680T>G] - p.[Tyr226X; Ile227Arg] - RPL5_00002 - Nonsense/Missense mutation transversion pat1rpl500002 f Atrial septal defect, flat thenar eminence, short stature na no - de novo, in patient Quarello et al (2009) Haematologica. 2009 Sep 22. [Epub ahead of print] DNA SEQ - 1
+/+ 06 c.692_693insT - p.Thr232AsnfsX50 - RPL5_00008 - Insertion slippage pat1rpl500008 f Cleft palate, persistent foramen ovale na na - de novo, in patient Quarello et al (2009) Haematologica. 2009 Sep 22. [Epub ahead of print] DNA SEQ - 1
+/+ 08 c.854C>T - p.Ala285Val - RPL5_00029 - Missense mutation transition pat1rpl500029 m SGA, flat thenar, short stature na yes - familial Cmejla et al (2009) Hum Mutat 30(3), 321-327 DNA SEQ - 1
+/+ 08 c.854C>T - p.Ala285Val - RPL5_00029 - Missense mutation transition pat2rpl500029 f SGA, flat thenar, short stature na na - de novo, in patient Cmejla et al (2009) Hum Mutat 30(3), 321-327 DNA SEQ - 1
1 - 59

Legend: [ RPL5 full legend ]
Sequence variations are described basically as recommended by the Ad-Hoc Committee for Mutation Nomenclature (AHCMN), with the recently suggested additions (den Dunnen JT and Antonarakis SE [2000], Hum.Mut. 15:7-12); for a summary see Nomenclature. Coding DNA Reference Sequence, with the first base of the Met-codon counted as position 1.
Path.: Variant pathogenicity, in the format Reported/Concluded; '+' indicating the variant is pathogenic, '+?' probably pathogenic, '-' no known pathogenicity, '-?' probably no pathogenicity, '?' effect unknown. Exon: Exon numbering. DNA change: Variation at DNA-level. If present, "Full Details" will show you the the full-length entry. RNA change: Variation at RNA-level, (?) unknown but probably identical to DNA. Protein: Variation at protein level. Frequency: Frequency of polymorphism. RPL5 DB-ID: Database IDentifier; When available, links to OMIM ID's are provided. Location: Variant location at DNA level. Remarks: Description of the variant Molecula Mechanisms: Molecular mechanisms Patient ID: Internal reference to the patient. Gender: Patient gender Malformations: Malformations associated to the allelic variant. Growth Retardation: Growth retardation. Steroid Response: Response to steroid treatment. Complications: Medical complications, malignancies Variant Origin: Variant origin Reference: Reference describing the variation, "Submitted:" indicating that the mutation was submitted directly to this database. Template: Variant detected in DNA, RNA and/or Protein. Technique: Technique used to detect the variation. # Reported: Number of times this case has been reported

  Powered by LOVD v.2.0 Build 38
Enabled modules: mutalyzer, recaptcha, showmaxdbid
©2004-2019 Leiden University Medical Center