rs273899692

minus

Geno	Mag	Summary
(-;CT)	6	BRCA1 variant considered pathogenic for breast cancer
(AT;CT)	6	BRCA1 variant considered pathogenic for breast cancer
(CT;CT)	0	common in clinvar

Make rs273899692(CT;TA)

Make rs273899692(TA;TA)

Reference

GRCh38 38.1/142

Chromosome

17

Position

43092535

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs273899692
dbSNP (classic)	rs273899692
ClinGen	rs273899692
ebi	rs273899692
HLI	rs273899692
Exac	rs273899692
Gnomad	rs273899692
Varsome	rs273899692
LitVar	rs273899692
Map	rs273899692
PheGenI	rs273899692
Biobank	rs273899692
1000 genomes	rs273899692
hgdp	rs273899692
ensembl	rs273899692
geneview	rs273899692
scholar	rs273899692
google	rs273899692
pharmgkb	rs273899692
gwascentral	rs273899692
openSNP	rs273899692
23andMe	rs273899692
SNPshot	rs273899692
SNPdbe	rs273899692
MSV3d	rs273899692
GWAS Ctlg	rs273899692

Max Magnitude

6

rs273899692, also known as L999X, c.2995_2996delCTinsTA and p.Leu999Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs273899692(TA;TA)
Alt	rs273899692(TA;TA)
Reference	Rs273899692(CT;CT)
Significance	Pathogenic
Disease	Breast-ovarian cancer Familial cancer of breast Hereditary cancer-predisposing syndrome
Variation	info
Gene	BRCA1
CLNDBN	Breast-ovarian cancer, familial 1 Familial cancer of breast Hereditary cancer-predisposing syndrome
Reversed	1
HGVS	NC_000017.10:g.41244552_41244553delAGinsTA
CLNSRC	ClinVar
CLNACC	RCV000111976.3, RCV000159910.1, RCV000164626.2,