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rs80357837

From SNPedia

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


Make rs80357837(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43071159
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357837
ebirs80357837
HLIrs80357837
Exacrs80357837
Varsomers80357837
Maprs80357837
PheGenIrs80357837
hapmaprs80357837
1000 genomesrs80357837
hgdprs80357837
ensemblrs80357837
gopubmedrs80357837
geneviewrs80357837
scholarrs80357837
googlers80357837
pharmgkbrs80357837
gwascentralrs80357837
openSNPrs80357837
23andMers80357837
23andMe allrs80357837
SNP Nexus

SNPshotrs80357837
SNPdbers80357837
MSV3drs80357837
GWAS Ctlgrs80357837
Max Magnitude6
rs80357837, also known as 4873delCA, c.4754_4755delCA and p.Pro1585Argfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357837(;)
Alt rs80357837(;)
Reference rs80357837(CA;CA)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer Tumor susceptibility linked to germline BAP1 mutations
Variation info
Gene BRCA1
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 1 Tumor susceptibility linked to germline BAP1 mutations
Reversed 1
HGVS NC_000017.10:g.41223176_41223177delTG
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000048652.2, RCV000112394.2, RCV000219878.1,