rs273900714

minus

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

Make rs273900714(C;C)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43091814

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs273900714
dbSNP (classic)	rs273900714
ClinGen	rs273900714
ebi	rs273900714
HLI	rs273900714
Exac	rs273900714
Gnomad	rs273900714
Varsome	rs273900714
LitVar	rs273900714
Map	rs273900714
PheGenI	rs273900714
Biobank	rs273900714
1000 genomes	rs273900714
hgdp	rs273900714
ensembl	rs273900714
geneview	rs273900714
scholar	rs273900714
google	rs273900714
pharmgkb	rs273900714
gwascentral	rs273900714
openSNP	rs273900714
23andMe	rs273900714
SNPshot	rs273900714
SNPdbe	rs273900714
MSV3d	rs273900714
GWAS Ctlg	rs273900714

Max Magnitude

6

rs273900714, also known as 3834delTCTinsC, c.3715_3717delTCTinsC and p.Ser1239Profs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs273900714(C;C)
Alt	rs273900714(C;C)
Reference	Rs273900714(TCT;TCT)
Significance	Pathogenic
Disease	Familial cancer of breast Breast-ovarian cancer
Variation	info
Gene	BRCA1
CLNDBN	Familial cancer of breast Breast-ovarian cancer, familial 1
Reversed	1
HGVS	NC_000017.10:g.41243831_41243833delAGAinsG
CLNSRC	Breast Cancer Information Core (BRCA1)
CLNACC	RCV000048298.2, RCV000112163.2,