rs273900730

minus

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

Make rs273900730(TT;TT)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43076579

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs273900730
dbSNP (classic)	rs273900730
ClinGen	rs273900730
ebi	rs273900730
HLI	rs273900730
Exac	rs273900730
Gnomad	rs273900730
Varsome	rs273900730
LitVar	rs273900730
Map	rs273900730
PheGenI	rs273900730
Biobank	rs273900730
1000 genomes	rs273900730
hgdp	rs273900730
ensembl	rs273900730
geneview	rs273900730
scholar	rs273900730
google	rs273900730
pharmgkb	rs273900730
gwascentral	rs273900730
openSNP	rs273900730
23andMe	rs273900730
SNPshot	rs273900730
SNPdbe	rs273900730
MSV3d	rs273900730
GWAS Ctlg	rs273900730

Max Magnitude

6

rs273900730, also known as 4510delCTAinsTT, c.4391_4393delCTAinsTT and p.Pro1464_Ile1465LeuTerfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs273900730(TT;TT)
Alt	rs273900730(TT;TT)
Reference	Rs273900730(CTA;CTA)
Significance	Pathogenic
Disease	Breast-ovarian cancer Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome Familial cancer of breast not provided
Variation	info
Gene	BRCA1
CLNDBN	Breast-ovarian cancer, familial 1 Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome Familial cancer of breast not provided
Reversed	1
HGVS	NC_000017.10:g.41228596_41228598delTAGinsAA
CLNSRC	Breast Cancer Information Core (BRCA1)
CLNACC	RCV000031169.9, RCV000048545.3, RCV000164829.1, RCV000239298.1, RCV000255855.1,