rs267607203

minus

Geno	Mag	Summary
(C;C)	0	common in clinvar
(C;T)	6.7	Cerebral Cavernous Malformation mutation

Make rs267607203(T;T)

Reference

GRCh38 38.1/141

Chromosome

7

Position

92222870

Gene

KRIT1

is a	snp
is	mentioned by
dbSNP	rs267607203
dbSNP (classic)	rs267607203
ClinGen	rs267607203
ebi	rs267607203
HLI	rs267607203
Exac	rs267607203
Gnomad	rs267607203
Varsome	rs267607203
LitVar	rs267607203
Map	rs267607203
PheGenI	rs267607203
Biobank	rs267607203
1000 genomes	rs267607203
hgdp	rs267607203
ensembl	rs267607203
geneview	rs267607203
scholar	rs267607203
google	rs267607203
pharmgkb	rs267607203
gwascentral	rs267607203
openSNP	rs267607203
23andMe	rs267607203
SNPshot	rs267607203
SNPdbe	rs267607203
MSV3d	rs267607203
GWAS Ctlg	rs267607203

Max Magnitude

6.7

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,