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rs80357538

From SNPedia

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


Make rs80357538(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43090959
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357538
ebirs80357538
HLIrs80357538
Exacrs80357538
Varsomers80357538
Maprs80357538
PheGenIrs80357538
hapmaprs80357538
1000 genomesrs80357538
hgdprs80357538
ensemblrs80357538
gopubmedrs80357538
geneviewrs80357538
scholarrs80357538
googlers80357538
pharmgkbrs80357538
gwascentralrs80357538
openSNPrs80357538
23andMers80357538
23andMe allrs80357538
SNP Nexus

SNPshotrs80357538
SNPdbers80357538
MSV3drs80357538
GWAS Ctlgrs80357538
Max Magnitude6
rs80357538, also known as 4286del4, c.4167_4170delTGAC and p.Ser1389_Asp1390?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357538(;)
Alt rs80357538(;)
Reference rs80357538(TGAC;TGAC)
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.41242976_41242979delGTCA
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000048467.2, RCV000112275.1,