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rs80357985

From SNPedia

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


Make rs80357985(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43094366
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357985
ebirs80357985
HLIrs80357985
Exacrs80357985
Varsomers80357985
Maprs80357985
PheGenIrs80357985
hapmaprs80357985
1000 genomesrs80357985
hgdprs80357985
ensemblrs80357985
gopubmedrs80357985
geneviewrs80357985
scholarrs80357985
googlers80357985
pharmgkbrs80357985
gwascentralrs80357985
openSNPrs80357985
23andMers80357985
23andMe allrs80357985
SNP Nexus

SNPshotrs80357985
SNPdbers80357985
MSV3drs80357985
GWAS Ctlgrs80357985
Max Magnitude6
rs80357985, also known as 1284delA, c.1165_1165delA and p.Ser389Valfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357985(;)
Alt rs80357985(;)
Reference rs80357985(A;A)
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.41246383delT
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000047368.2, RCV000111562.1,