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rs80357738

From SNPedia

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


Make rs80357738(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43104878
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357738
ebirs80357738
HLIrs80357738
Exacrs80357738
Varsomers80357738
Maprs80357738
PheGenIrs80357738
hapmaprs80357738
1000 genomesrs80357738
hgdprs80357738
ensemblrs80357738
gopubmedrs80357738
geneviewrs80357738
scholarrs80357738
googlers80357738
pharmgkbrs80357738
gwascentralrs80357738
openSNPrs80357738
23andMers80357738
23andMe allrs80357738
SNP Nexus

SNPshotrs80357738
SNPdbers80357738
MSV3drs80357738
GWAS Ctlgrs80357738
Max Magnitude6
rs80357738, also known as 409delCA, c.290_291delCA and p.Thr97Argfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357738(;)
Alt rs80357738(;)
Reference rs80357738(CA;CA)
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.41256895_41256896delTG
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000048003.2, RCV000112223.1,