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rs267607203

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 6.7 Cerebral Cavernous Malformation mutation
Make rs267607203(T;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position92222870
GeneKRIT1
is asnp
is mentioned by
dbSNPrs267607203
dbSNP (classic)rs267607203
ClinGenrs267607203
ebirs267607203
HLIrs267607203
Exacrs267607203
Gnomadrs267607203
Varsomers267607203
LitVarrs267607203
Maprs267607203
PheGenIrs267607203
Biobankrs267607203
1000 genomesrs267607203
hgdprs267607203
ensemblrs267607203
geneviewrs267607203
scholarrs267607203
googlers267607203
pharmgkbrs267607203
gwascentralrs267607203
openSNPrs267607203
23andMers267607203
SNPshotrs267607203
SNPdbers267607203
MSV3drs267607203
GWAS Ctlgrs267607203
Max Magnitude6.7

KRIT1 gene variant, known as c.1363C>T, p.Gln455Ter and Q455X and due to numbering/naming differences also 742C-T, Q248*, and Gln248Ter.

The rs267607203(T) allele is considered to be a dominantly inherited, founder mutation in Mexican-American/Hispanic families for cerebral cavernous malformations, also known as cavernous angiomas. This mutation can also be known as the "Common Hispanic Mutation" in the lay literature.[1]

In the US, a nonprofit involved in supporting cavernous angioma research and treatment is the Angioma Alliance, which oversees the Baca Family Historical Project.


ClinVar
Risk rs267607203(T;T)
Alt rs267607203(T;T)
Reference Rs267607203(C;C)
Significance Pathogenic
Disease Cerebral cavernous malformations 1 Cerebral cavernous malformation not provided
Variation info
Gene KRIT1
CLNDBN Cerebral cavernous malformations 1 Cerebral cavernous malformation not provided
Reversed 1
HGVS NC_000007.13:g.91852184G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000006075.3, RCV000239441.2, RCV000256079.2,