rs273901753

minus

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

Make rs273901753(AGAGGAGATGTGGTCAATGGAAGAAACCACCAAGGTCCAA;TC)

Make rs273901753(TC;TC)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43057081

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs273901753
dbSNP (classic)	rs273901753
ClinGen	rs273901753
ebi	rs273901753
HLI	rs273901753
Exac	rs273901753
Gnomad	rs273901753
Varsome	rs273901753
LitVar	rs273901753
Map	rs273901753
PheGenI	rs273901753
Biobank	rs273901753
1000 genomes	rs273901753
hgdp	rs273901753
ensembl	rs273901753
geneview	rs273901753
scholar	rs273901753
google	rs273901753
pharmgkb	rs273901753
gwascentral	rs273901753
openSNP	rs273901753
23andMe	rs273901753
SNPshot	rs273901753
SNPdbe	rs273901753
MSV3d	rs273901753
GWAS Ctlg	rs273901753

Max Magnitude

6

rs273901753, also known as 5328del40insTC, c.5209_5248delinsTC and p.Arg1737_Lys1750?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs273901753(TC;TC)
Alt	rs273901753(TC;TC)
Reference	Rs273901753(AGAGGAGATGTGGTCAATGGAAGAAACCACCAAGGTCCAA;AGAGGAGATGTGGTCAATGGAAGAAACCACCAAGGTCCAA)
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.41209098_41209137del40insGA
CLNSRC	Breast Cancer Information Core (BRCA1)
CLNACC	RCV000048861.2, RCV000112565.1,