rs80357623

minus

Geno	Mag	Summary
(-;CTAAT)	6	BRCA1 variant considered pathogenic for breast cancer
(CTAAT;CTAAT)	0	Normal

Make rs80357623(-;-)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43067643

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357623
dbSNP (classic)	rs80357623
ClinGen	rs80357623
ebi	rs80357623
HLI	rs80357623
Exac	rs80357623
Gnomad	rs80357623
Varsome	rs80357623
LitVar	rs80357623
Map	rs80357623
PheGenI	rs80357623
Biobank	rs80357623
1000 genomes	rs80357623
hgdp	rs80357623
ensembl	rs80357623
geneview	rs80357623
scholar	rs80357623
google	rs80357623
pharmgkb	rs80357623
gwascentral	rs80357623
openSNP	rs80357623
23andMe	rs80357623
SNPshot	rs80357623
SNPdbe	rs80357623
MSV3d	rs80357623
GWAS Ctlg	rs80357623

Max Magnitude

6

rs80357623, also known as c.5030_5034delCTAAT, 5154del5, c.5035_5039delCTAAT and p.Leu1679_Ile1680?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80357623(-;-)
Alt	rs80357623(-;-)
Reference	Rs80357623(CTAAT;CTAAT)
Significance	Pathogenic
Disease	Breast-ovarian cancer Hereditary breast and ovarian cancer syndrome not provided
Variation	info
Gene	BRCA1
CLNDBN	Breast-ovarian cancer, familial 1 Hereditary breast and ovarian cancer syndrome not provided
Reversed	1
HGVS	NC_000017.10:g.41219660_41219664delATTAG
CLNSRC	Breast Cancer Information Core (BRCA1)
CLNACC	RCV000031205.6, RCV000048742.3, RCV000483893.1,