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rs80357956

From SNPedia

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


Make rs80357956(-;-)
ReferenceGRCh38.p2 38.2/144
Chromosome17
Position43091982
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357956
ebirs80357956
HLIrs80357956
Exacrs80357956
Varsomers80357956
Maprs80357956
PheGenIrs80357956
hapmaprs80357956
1000 genomesrs80357956
hgdprs80357956
ensemblrs80357956
gopubmedrs80357956
geneviewrs80357956
scholarrs80357956
googlers80357956
pharmgkbrs80357956
gwascentralrs80357956
openSNPrs80357956
23andMers80357956
23andMe allrs80357956
SNP Nexus

SNPshotrs80357956
SNPdbers80357956
MSV3drs80357956
GWAS Ctlgrs80357956
Max Magnitude6
rs80357956, also known as 3667delAA, c.3548_3549delAA and p.Lys1183Argfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357956(;)
Alt rs80357956(;)
Reference rs80357956(AA;AA)
Significance Pathogenic
Disease Breast-ovarian cancer
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1
Reversed 1
HGVS NC_000017.10:g.41243999_41244000delTT
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000112116.1,