rs80357620

minus

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

Make rs80357620(A;A)

Reference

GRCh38 38.1/142

Chromosome

17

Position

43076508

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357620
dbSNP (classic)	rs80357620
ClinGen	rs80357620
ebi	rs80357620
HLI	rs80357620
Exac	rs80357620
Gnomad	rs80357620
Varsome	rs80357620
LitVar	rs80357620
Map	rs80357620
PheGenI	rs80357620
Biobank	rs80357620
1000 genomes	rs80357620
hgdp	rs80357620
ensembl	rs80357620
geneview	rs80357620
scholar	rs80357620
google	rs80357620
pharmgkb	rs80357620
gwascentral	rs80357620
openSNP	rs80357620
23andMe	rs80357620
SNPshot	rs80357620
SNPdbe	rs80357620
MSV3d	rs80357620
GWAS Ctlg	rs80357620

Max Magnitude

6

rs80357620, also known as 4582insA, c.4463_4464insA and p.Asn1488?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80357620(A;A)
Alt	rs80357620(A;A)
Reference	Rs80357620(-;-)
Significance	Pathogenic
Disease	Breast-ovarian cancer
Variation	info
Gene	BRCA1
CLNDBN	Breast-ovarian cancer, familial 1
Reversed	1
HGVS	NC_000017.10:g.41228526dupT
CLNSRC	Breast Cancer Information Core (BRCA1)
CLNACC	RCV000112336.2,