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rs80357540

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;TC) 6 BRCA1 variant considered pathogenic for breast cancer
(CT;CT) 0 common in clinvar
(TC;TC) 0 common in complete genomics


Make rs80357540(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43092787
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357540
ebirs80357540
HLIrs80357540
Exacrs80357540
Varsomers80357540
Maprs80357540
PheGenIrs80357540
hapmaprs80357540
1000 genomesrs80357540
hgdprs80357540
ensemblrs80357540
gopubmedrs80357540
geneviewrs80357540
scholarrs80357540
googlers80357540
pharmgkbrs80357540
gwascentralrs80357540
openSNPrs80357540
23andMers80357540
23andMe allrs80357540
SNP Nexus

SNPshotrs80357540
SNPdbers80357540
MSV3drs80357540
GWAS Ctlgrs80357540
Max Magnitude6
rs80357540, also known as 2862delTC, c.2743_2744delTC and p.Ser915Terfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
OMIM113705
Desc
Variant0009
Relatedalso
ClinVar
Risk rs80357540(;)
Alt rs80357540(;)
Reference rs80357540(CT;CT)
Significance Pathogenic
Disease Familial cancer of breast Hereditary cancer-predisposing syndrome Breast-ovarian cancer
Variation info
Gene BRCA1
CLNDBN Familial cancer of breast Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial 1
Reversed 1
HGVS NC_000017.10:g.41244803_41244804delAG
CLNSRC Breast Cancer Information Core (BRCA1) OMIM Allelic Variant
CLNACC RCV000047955.2, RCV000132272.2, RCV000167766.3,