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rs28936072

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
(T;T) 0 common in clinvar
Make rs28936072(C;C)
Make rs28936072(C;T)
ReferenceGRCh38 38.1/142
ChromosomeX
Position154765472
GeneDKC1
is asnp
is mentioned by
dbSNPrs28936072
ebirs28936072
HLIrs28936072
Exacrs28936072
Varsomers28936072
Maprs28936072
PheGenIrs28936072
hapmaprs28936072
1000 genomesrs28936072
hgdprs28936072
ensemblrs28936072
gopubmedrs28936072
geneviewrs28936072
scholarrs28936072
googlers28936072
pharmgkbrs28936072
gwascentralrs28936072
openSNPrs28936072
23andMers28936072
23andMe allrs28936072
SNP Nexus

SNPshotrs28936072
SNPdbers28936072
MSV3drs28936072
GWAS Ctlgrs28936072
Max Magnitude0
OMIM300126
DescHOYERAAL-HREIDARSSON SYNDROME
Variant0012
Relatedalso
Neighborrs28937308
Distance5576


ClinVar
Risk rs28936072(G;G)
Alt rs28936072(G;G)
Reference Rs28936072(A;A)
Significance Pathogenic
Disease Hoyeraal Hreidarsson syndrome Dyskeratosis congenita X-linked
Variation info
Gene DKC1
CLNDBN Hoyeraal Hreidarsson syndrome Dyskeratosis congenita X-linked
Reversed 1
HGVS NC_000023.10:g.153993747T>C
CLNSRC OMIM Allelic Variant UniProtKB (protein) UniProtKB (variants)
CLNACC RCV000012351.2, RCV000055631.25,



[PMID 12437656] A novel DKC1 mutation, severe combined immunodeficiency (T+B-NK- SCID) and bone marrow transplantation in an infant with Hoyeraal-Hreidarsson syndrome.