rs273902775

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(A;GGTGACCCGAG)	6	BRCA1 variant considered pathogenic for breast cancer
(GGTGACCCGAG;GGTGACCCGAG)	0	common in clinvar

Make rs273902775(A;A)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43045764

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs273902775
dbSNP (classic)	rs273902775
ClinGen	rs273902775
ebi	rs273902775
HLI	rs273902775
Exac	rs273902775
Gnomad	rs273902775
Varsome	rs273902775
LitVar	rs273902775
Map	rs273902775
PheGenI	rs273902775
Biobank	rs273902775
1000 genomes	rs273902775
hgdp	rs273902775
ensembl	rs273902775
geneview	rs273902775
scholar	rs273902775
google	rs273902775
pharmgkb	rs273902775
gwascentral	rs273902775
openSNP	rs273902775
23andMe	rs273902775
SNPshot	rs273902775
SNPdbe	rs273902775
MSV3d	rs273902775
GWAS Ctlg	rs273902775

Max Magnitude

6

c.5496_5506delGGTGACCCGAGinsA (p.Val1833Serfs)

ClinVar designates this as pathogenic for breast cancer

ClinVar
Risk	rs273902775(A;A)
Alt	rs273902775(A;A)
Reference	Rs273902775(GGTGACCCGAG;GGTGACCCGAG)
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.41197781_41197791delCTCGGGTCACCinsT
CLNSRC	Breast Cancer Information Core (BRCA1)
CLNACC	RCV000049016.2, RCV000112681.1,