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rs80357836

From SNPedia

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


Make rs80357836(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43094459
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357836
ebirs80357836
HLIrs80357836
Exacrs80357836
Varsomers80357836
Maprs80357836
PheGenIrs80357836
hapmaprs80357836
1000 genomesrs80357836
hgdprs80357836
ensemblrs80357836
gopubmedrs80357836
geneviewrs80357836
scholarrs80357836
googlers80357836
pharmgkbrs80357836
gwascentralrs80357836
openSNPrs80357836
23andMers80357836
23andMe allrs80357836
SNP Nexus

SNPshotrs80357836
SNPdbers80357836
MSV3drs80357836
GWAS Ctlgrs80357836
Max Magnitude6
rs80357836, also known as 1191delC, c.1072_1072delC and p.Leu358Cysfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357836(;)
Alt rs80357836(;)
Reference rs80357836(C;C)
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.41246476delG
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000047329.2, RCV000111541.1,