rs121912288

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;C)	0	common in clinvar

Make rs121912288(C;T)

Make rs121912288(T;T)

Reference

GRCh38 38.1/141

Chromosome

X

Position

154773152

Gene	DKC1, SNORA56

is a	snp
is	mentioned by
dbSNP	rs121912288
dbSNP (classic)	rs121912288
ClinGen	rs121912288
ebi	rs121912288
HLI	rs121912288
Exac	rs121912288
Gnomad	rs121912288
Varsome	rs121912288
LitVar	rs121912288
Map	rs121912288
PheGenI	rs121912288
Biobank	rs121912288
1000 genomes	rs121912288
hgdp	rs121912288
ensembl	rs121912288
geneview	rs121912288
scholar	rs121912288
google	rs121912288
pharmgkb	rs121912288
gwascentral	rs121912288
openSNP	rs121912288
23andMe	rs121912288
SNPshot	rs121912288
SNPdbe	rs121912288
MSV3d	rs121912288
GWAS Ctlg	rs121912288

Merged from

Rs28935173

Max Magnitude

0

OMIM	300126
Desc
Variant	0006
Related	also

ClinVar
Risk	rs121912288(T;T)
Alt	rs121912288(T;T)
Reference	Rs121912288(C;C)
Significance	Pathogenic
Disease	Dyskeratosis congenita X-linked Dyskeratosis congenita
Variation	info
Gene	DKC1 SNORA56
CLNDBN	Dyskeratosis congenita X-linked Dyskeratosis congenita
Reversed	0
HGVS	NC_000023.10:g.154001427C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein) UniProtKB (variants)
CLNACC	RCV000012343.26, RCV000464438.1,

[PMID 10364516] 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.