rs80357935

minus

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

Make rs80357935(ATCT;ATCT)

Reference

GRCh38 38.1/142

Chromosome

17

Position

43091017

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357935
dbSNP (classic)	rs80357935
ClinGen	rs80357935
ebi	rs80357935
HLI	rs80357935
Exac	rs80357935
Gnomad	rs80357935
Varsome	rs80357935
LitVar	rs80357935
Map	rs80357935
PheGenI	rs80357935
Biobank	rs80357935
1000 genomes	rs80357935
hgdp	rs80357935
ensembl	rs80357935
geneview	rs80357935
scholar	rs80357935
google	rs80357935
pharmgkb	rs80357935
gwascentral	rs80357935
openSNP	rs80357935
23andMe	rs80357935
SNPshot	rs80357935
SNPdbe	rs80357935
MSV3d	rs80357935
GWAS Ctlg	rs80357935

Max Magnitude

6

rs80357935, also known as 4230ins4, c.4111_4112insATCT and p.Gly1371?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80357935(ATCT;ATCT)
Alt	rs80357935(ATCT;ATCT)
Reference	Rs80357935(-;-)
Significance	Pathogenic
Disease	Breast-ovarian cancer
Variation	info
Gene	BRCA1
CLNDBN	Breast-ovarian cancer, familial 1
Reversed	1
HGVS	NC_000017.10:g.41243034_41243035insAGAT
CLNSRC	Breast Cancer Information Core (BRCA1)
CLNACC	RCV000112261.2,