Search unique variants - Diamond-Blackfan Anemia - Leiden Open Variation Database

About this overview [Show]

The variants below are all in the RPL11 database, matching your query. In this view only variant fields are shown. Variants are listed only once, a number is present in the DNA change field when a variant has been reported more than once (in such cases fields other than the DNA change just belong to one entry and may differ for other entries).
Selecting and clicking a specific line will open a detailed view showing all variant entries, including patient and pathogenicity information.
At the bottom of this page a legend is provided with a short explanation of what each field contains.
For a more detailed description of each field, please see the RPL11 full legend here.

26 entries
entries per page

Exon

DNA change

RNA change

Protein

Frequency

DB-ID

Location

Remarks

Molecula Mechanisms


01	c.6+2T>C	-	p.0?	-	RPL11_00018	Intron 1	Donor splice site defect	transition
02	c.59T>A	-	p.Leu20His	-	RPL11_00022	-	Missense mutation	transversion
02	c.60_61delCT (Reported 6 times)	-	p.Cys21SerfsX33	-	RPL11_00001	-	Deletion	slippage
02	c.74delG	-	p.Cys25LeufsX9	-	RPL11_00002	-	Deletion	-
02	c.94_97delAGAC	-	p.Arg32X	-	RPL11_00013	-	Deletion	slippage
02	c.95_96delGA	-	p.Arg32ThrfsX22	-	RPL11_00003	-	Deletion	-
02	c.100_101dupA	-	p.Thr34AsnfsX21	-	RPL11_00026	-	Insertion	slippage
02	c.143_157+32del	-	p.0?	-	RPL11_00004	-	Deletion	-
02	c.157+1_157+16del	-	p.0?	-	RPL11_00005	-	Deletion	-
03	c.158-2A>C	-	p.0?	-	RPL11_00025	Intron2	Acceptor splice site defect	transversion
03	c.158-1G>A (Reported 2 times)	-	p.0?	-	RPL11_00019	Intron 2	Acceptor splice site defect	transition
03	c.160_161dupA	-	p.Arg54LysfsX13	-	RPL11_00014	-	Insertion	slippage
03	c.198_202delAAAGA	-	p.Glu66AspfsX26	-	RPL11_00006	-	Deletion	slippage
03	c.223C>T	-	p.Arg75X	-	RPL11_00012	-	Nonsense mutation	CpG
04	c.290delA	-	p.Asn97ThrfsX97	-	RPL11_00015	-	Deletion	slippage
04	c.291_302del	-	p.Asn98_Asp101del	-	RPL11_00007	-	Deletion	-
04	c.293_294dupA	-	p.Asn98LysfsX23	-	RPL11_00016	-	Insertion	slippage
04	c.314_315delTT (Reported 3 times)	-	p.Phe105TrpfsX15	-	RPL11_00008	-	Deletion	slippage
04	c.357T>G	-	p.Tyr119X	-	RPL11_00023	-	Nonsense mutation	transversion
04	c.396+1G>A (Reported 2 times)	-	p.0?	-	RPL11_00021	Intron 4	Donor splice site defect	transition
04	c.396+1G>T	-	p.0?	-	RPL11_00020	Intron 4	Donor splice site defect	transversion
05	c.465_466delCA	-	p.His155GlnfsX16	-	RPL11_00009	-	Deletion	slippage
05	c.469delA	-	p.Ile157SerfsX37	-	RPL11_00010	-	Deletion	slippage
05	c.475_476insCAGAATCAGCA	-	p.Lys159ThrfsX39	-	RPL11_00024	-	Insertion	slippage
05	c.482_484delAGG (Reported 2 times)	-	p.Glu161del	-	RPL11_00017	-	Deletion	slippage
06	c.508-2A>G (Reported 2 times)	-	p.0?	-	RPL11_00011	Intron 5	Acceptor splice site defect	transition

1 - 26

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.
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

Diamond-Blackfan Anemia

ribosomal protein L11 (RPL11)