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LOVD - Variant listings for RPL11

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+/+ 01 c.6+2T>C - p.0? - RPL11_00018 Intron 1 Donor splice site defect transition pat1rpl1100018 f None na no - de novo, in patient Gazda et al (2008) Am J Hum Genet 83(6), 769-80 DNA SEQ - 1
+/+ 02 c.59T>A - p.Leu20His - RPL11_00022 - Missense mutation transversion pat1rpl1100022 f SGA, flat thenar, atypical thumb na na - sporadic?(parents not tested) Cmejla et al (2009) Hum Mutat 30(3), 321-327 DNA SEQ - 1
+/+ 02 c.60_61delCT - p.Cys21SerfsX33 - RPL11_00001 - Deletion slippage pat1rpl1100001 f Cleft palate, flat thenar eminence na no - sporadic?(parents not tested) Quarello et al (2009) Haematologica. 2009 Sep 22. [Epub ahead of print] DNA SEQ - 1
+/+ 02 c.60_61delCT - p.Cys21SerfsX33 - RPL11_00001 - Deletion slippage pat2rpl1100001 f Short stature na yes - familial Quarello et al (2009) Haematologica. 2009 Sep 22. [Epub ahead of print] DNA SEQ - 1
+/+ 02 c.60_61delCT - p.Cys21SerfsX33 - RPL11_00001 - Deletion slippage pat3rpl1100001 f None no no - sporadic?(parents not tested) U. Ramenghi, Dept. Pediatrics Università di Torino DNA SEQ - 1
+/+ 02 c.60_61delCT - p.Cys21SerfsX33 - RPL11_00001 - Deletion slippage pat4rpl1100001 f VSD, narrow pulmonary artery na yes - familial Gazda et al (2008) Am J Hum Genet 83(6), 769-80 DNA SEQ - 1
+/+ 02 c.60_61delCT - p.Cys21SerfsX33 - RPL11_00001 - Deletion slippage pat5rpl1100001 f Triphalangeal thumb na na - familial Gazda et al (2008) Am J Hum Genet 83(6), 769-80 DNA SEQ - 1
+/+ 02 c.60_61delCT - p.Cys21SerfsX33 - RPL11_00001 - Deletion slippage pat6rpl1100001 f Triphalangeal thumb na na - sporadic?(parents not tested) Gazda et al (2008) Am J Hum Genet 83(6), 769-80 DNA SEQ - 1
+/+ 02 c.74delG - p.Cys25LeufsX9 - RPL11_00002 - Deletion - pat1rpl1100002 m Hypospadias, renal ectopy, café au lait spots na yes - de novo, in patient Quarello et al (2009) Haematologica. 2009 Sep 22. [Epub ahead of print] DNA SEQ - 1
+/+ 02 c.94_97delAGAC - p.Arg32X - RPL11_00013 - Deletion slippage pat1rpl1100013 f None na yes - sporadic?(parents not tested) Gazda et al (2008) Am J Hum Genet 83(6), 769-80 DNA SEQ - 1
+/+ 02 c.95_96delGA - p.Arg32ThrfsX22 - RPL11_00003 - Deletion - pat1rpl1100003 m None na no - sporadic?(parents not tested) Quarello et al (2009) Haematologica. 2009 Sep 22. [Epub ahead of print] DNA SEQ - 1
+/+ 02 c.100_101dupA - p.Thr34AsnfsX21 - RPL11_00026 - Insertion slippage pat1rpl1100026 f VSD, ASD, abnormal thumbs no no steroid trial - sporadic?(parents not tested) Hanna Gazda, Children's Hospital Boston DNA SEQ - 1
+/+ 02 c.143_157+32del - p.0? - RPL11_00004 - Deletion - pat1rpl1100004 f Hypoplastic thumb,VSD na na - sporadic?(parents not tested) Quarello et al (2009) Haematologica. 2009 Sep 22. [Epub ahead of print] DNA SEQ - 1
+/+ 02 c.157+1_157+16del - p.0? - RPL11_00005 - Deletion - pat1rpl1100005 f Bilateral triphalangeal thumbs, persistent foramen ovale na yes - de novo, in patient Quarello et al (2009) Haematologica. 2009 Sep 22. [Epub ahead of print] DNA SEQ - 1
+/+ 03 c.158-2A>C - p.0? - RPL11_00025 Intron2 Acceptor splice site defect transversion pat1rpl1100025 m None yes yes - sporadic?(parents not tested) Hanna Gazda, Children's Hospital Boston DNA SEQ - 1
+/+ 03 c.158-1G>A - p.0? - RPL11_00019 Intron 2 Acceptor splice site defect transition pat1rpl1100019 m Flat thenar muscle, small jaw na yes - de novo, in patient Gazda et al (2008) Am J Hum Genet 83(6), 769-80 DNA SEQ - 1
+/+ 03 c.158-1G>A - p.0? - RPL11_00019 Intron 2 Acceptor splice site defect transition pat2rpl1100019 m Tetralogy of Fallot, bilateral grade 3 vesicoureteral reflex na na - sporadic?(parents not tested) Gazda et al (2008) Am J Hum Genet 83(6), 769-80 DNA SEQ - 1
+/+ 03 c.160_161dupA - p.Arg54LysfsX13 - RPL11_00014 - Insertion slippage pat1rpl1100014 m Abnormal thumbs na yes - sporadic?(parents not tested) Gazda et al (2008) Am J Hum Genet 83(6), 769-80 DNA SEQ - 1
+/+ 03 c.198_202delAAAGA - p.Glu66AspfsX26 - RPL11_00006 - Deletion slippage pat1rpl1100006 f Cathie's facies, flat thenar eminence, short stature na yes - sporadic?(parents not tested) Quarello et al (2009) Haematologica. 2009 Sep 22. [Epub ahead of print] DNA SEQ - 1
+/+ 03 c.223C>T - p.Arg75X - RPL11_00012 - Nonsense mutation CpG pat1rpl1100012 f Triphalangeal thumb na yes - de novo, in patient Gazda et al (2008) Am J Hum Genet 83(6), 769-80 DNA SEQ - 1
+/+ 04 c.290delA - p.Asn97ThrfsX97 - RPL11_00015 - Deletion slippage pat1rpl1100015 f Short neck na no - de novo, in patient Gazda et al (2008) Am J Hum Genet 83(6), 769-80 DNA SEQ - 1
+/+ 04 c.291_302del - p.Asn98_Asp101del - RPL11_00007 - Deletion - pat1rpl1100007 f Not available na na - de novo, in patient Quarello et al (2009) Haematologica. 2009 Sep 22. [Epub ahead of print] DNA SEQ - 1
+/+ 04 c.293_294dupA - p.Asn98LysfsX23 - RPL11_00016 - Insertion slippage pat1rpl1100016 m Horseshoe kidney na yes - de novo, in patient Gazda et al (2008) Am J Hum Genet 83(6), 769-80 DNA SEQ - 1
+/+ 04 c.314_315delTT - p.Phe105TrpfsX15 - RPL11_00008 - Deletion slippage pat1rpl1100008 m Flat thenar eminence, tetralogy of Fallot, short stature na yes - de novo, in patient Quarello et al (2009) Haematologica. 2009 Sep 22. [Epub ahead of print] DNA SEQ - 1
+/+ 04 c.314_315delTT - p.Phe105TrpfsX15 - RPL11_00008 - Deletion slippage pat2rpl1100008 m Not available na yes - sporadic?(parents not tested) Gazda et al (2008) Am J Hum Genet 83(6), 769-80 DNA SEQ - 1
+/+ 04 c.314_315delTT - p.Phe105TrpfsX15 - RPL11_00008 - Deletion slippage pat3rpl1100008 m Small extra thumbs na na - familial Gazda et al (2008) Am J Hum Genet 83(6), 769-80 DNA SEQ - 1
+/+ 04 c.357T>G - p.Tyr119X - RPL11_00023 - Nonsense mutation transversion pat1rpl1100023 f SGA, flat thenar, bifid thumb na yes - sporadic?(parents not tested) Cmejla et al (2009) Hum Mutat 30(3), 321-327 DNA SEQ - 1
+/+ 04 c.396+1G>A - p.0? - RPL11_00021 Intron 4 Donor splice site defect transition pat1rpl1100021 m Small extra thumbs, tetralogy of Fallot na yes - familial Gazda et al (2008) Am J Hum Genet 83(6), 769-80 DNA SEQ - 1
+/+ 04 c.396+1G>A - p.0? - RPL11_00021 Intron 4 Donor splice site defect transition pat2rpl1100021 f Left thumb: additional short phalanx na na - sporadic?(parents not tested) Gazda et al (2008) Am J Hum Genet 83(6), 769-80 DNA SEQ - 1
+/+ 04 c.396+1G>T - p.0? - RPL11_00020 Intron 4 Donor splice site defect transversion pat1rpl1100020 f Hypoplastic thumb, flat thenar muscle yes yes - de novo, in patient Gazda et al (2008) Am J Hum Genet 83(6), 769-80 DNA SEQ - 1
+/+ 05 c.465_466delCA - p.His155GlnfsX16 - RPL11_00009 - Deletion slippage pat1rpl1100009 f ASD, 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
+/+ 05 c.469delA - p.Ile157SerfsX37 - RPL11_00010 - Deletion slippage pat1rpl1100010 m Bilateral triphalangeal thumbs, cleft palate, micrognathia, short stature na yes - de novo, in patient Quarello et al (2009) Haematologica. 2009 Sep 22. [Epub ahead of print] DNA SEQ - 1
+/+ 05 c.475_476insCAGAATCAGCA - p.Lys159ThrfsX39 - RPL11_00024 - Insertion slippage pat1rpl1100024 m None no yes - sporadic?(parents not tested) Hanna Gazda, Children's Hospital Boston DNA SEQ - 1
+/+ 05 c.482_484delAGG - p.Glu161del - RPL11_00017 - Deletion slippage pat1rpl1100017 f None na yes (high doses) - familial Gazda et al (2008) Am J Hum Genet 83(6), 769-80 DNA SEQ - 1
+/+ 05 c.482_484delAGG - p.Glu161del - RPL11_00017 - Deletion slippage pat2rpl1100017 f None na na - sporadic?(parents not tested) Gazda et al (2008) Am J Hum Genet 83(6), 769-80 DNA SEQ - 1
+/+ 06 c.508-2A>G - p.0? - RPL11_00011 Intron 5 Acceptor splice site defect transition pat1rpl1100011 f Short stature na no - familial Quarello et al (2009) Haematologica. 2009 Sep 22. [Epub ahead of print] DNA SEQ - 1
+/+ 06 c.508-2A>G - p.0? - RPL11_00011 Intron 5 Acceptor splice site defect transition pat2rpl1100011 m None no no - sporadic?(parents not tested) U. Ramenghi, Dept. Pediatrics Università di Torino DNA SEQ - 1
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Legend: [ RPL11 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. RPL11 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

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