rs80359872

minus

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

Make rs80359872(-;-)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43094516

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80359872
dbSNP (classic)	rs80359872
ClinGen	rs80359872
ebi	rs80359872
HLI	rs80359872
Exac	rs80359872
Gnomad	rs80359872
Varsome	rs80359872
LitVar	rs80359872
Map	rs80359872
PheGenI	rs80359872
Biobank	rs80359872
1000 genomes	rs80359872
hgdp	rs80359872
ensembl	rs80359872
geneview	rs80359872
scholar	rs80359872
google	rs80359872
pharmgkb	rs80359872
gwascentral	rs80359872
openSNP	rs80359872
23andMe	rs80359872
SNPshot	rs80359872
SNPdbe	rs80359872
MSV3d	rs80359872
GWAS Ctlg	rs80359872

Max Magnitude

6

rs80359872, also known as 1071del64, c.952_1015del and p.His318_Lys339?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80359872(-;-)
Alt	rs80359872(-;-)
Reference	Rs80359872(CATAACAGATGGGCTGGAAGTAAGGAAACATGTAATGATAGGCGGACTCCCAGCACAGAAAAAA;CATAACAGATGGGCTGGAAGTAAGGAAACATGTAATGATAGGCGGACTCCCAGCACAGAAAAAA)
Significance	Pathogenic
Disease	Breast-ovarian cancer Familial cancer of breast
Variation	info
Gene	BRCA1
CLNDBN	Breast-ovarian cancer, familial 1 Familial cancer of breast
Reversed	1
HGVS	NC_000017.10:g.41246533_41246596del64
CLNSRC	Breast Cancer Information Core (BRCA1)
CLNACC	RCV000031291.5, RCV000049201.2,