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rs121912288

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121912288(C;T)
Make rs121912288(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position154773152
GeneDKC1, SNORA56
is asnp
is mentioned by
dbSNPrs121912288
ebirs121912288
HLIrs121912288
Exacrs121912288
Varsomers121912288
Maprs121912288
PheGenIrs121912288
hapmaprs121912288
1000 genomesrs121912288
hgdprs121912288
ensemblrs121912288
gopubmedrs121912288
geneviewrs121912288
scholarrs121912288
googlers121912288
pharmgkbrs121912288
gwascentralrs121912288
openSNPrs121912288
23andMers121912288
23andMe allrs121912288
SNP Nexus

SNPshotrs121912288
SNPdbers121912288
MSV3drs121912288
GWAS Ctlgrs121912288
Merged fromRs28935173
Max Magnitude0
OMIM300126
Desc
Variant0006
Relatedalso
ClinVar
Risk rs121912288(T;T)
Alt rs121912288(T;T)
Reference rs121912288(C;C)
Significance Pathogenic
Disease Dyskeratosis congenita X-linked
Variation info
Gene SNORA56 DKC1
CLNDBN Dyskeratosis congenita X-linked
Reversed 0
HGVS NC_000023.10:g.154001427C>T
CLNSRC OMIM Allelic Variant UniProtKB (variants)
CLNACC RCV000012343.26,


[PMID 10364516OA-icon.png] X-linked dyskeratosis congenita is predominantly caused by missense mutations in the DKC1 gene.


[PMID 15304085] Identification of a novel mutation and a de novo mutation in DKC1 in two Chinese pedigrees with Dyskeratosis congenita.