rs80357700

minus

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

Make rs80357700(-;-)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43094800

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357700
dbSNP (classic)	rs80357700
ClinGen	rs80357700
ebi	rs80357700
HLI	rs80357700
Exac	rs80357700
Gnomad	rs80357700
Varsome	rs80357700
LitVar	rs80357700
Map	rs80357700
PheGenI	rs80357700
Biobank	rs80357700
1000 genomes	rs80357700
hgdp	rs80357700
ensembl	rs80357700
geneview	rs80357700
scholar	rs80357700
google	rs80357700
pharmgkb	rs80357700
gwascentral	rs80357700
openSNP	rs80357700
23andMe	rs80357700
SNPshot	rs80357700
SNPdbe	rs80357700
MSV3d	rs80357700
GWAS Ctlg	rs80357700

Max Magnitude

6

rs80357700, also known as 850delA, c.731_731delA and p.Asn244Metfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80357700(-;-)
Alt	rs80357700(-;-)
Reference	Rs80357700(A;A)
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.41246817delT
CLNSRC	Breast Cancer Information Core (BRCA1)
CLNACC	RCV000049111.2, RCV000112777.2,