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rs80357750

From SNPedia

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


Make rs80357750(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43115759
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357750
ebirs80357750
HLIrs80357750
Exacrs80357750
Varsomers80357750
Maprs80357750
PheGenIrs80357750
hapmaprs80357750
1000 genomesrs80357750
hgdprs80357750
ensemblrs80357750
gopubmedrs80357750
geneviewrs80357750
scholarrs80357750
googlers80357750
pharmgkbrs80357750
gwascentralrs80357750
openSNPrs80357750
23andMers80357750
23andMe allrs80357750
SNP Nexus

SNPshotrs80357750
SNPdbers80357750
MSV3drs80357750
GWAS Ctlgrs80357750
Max Magnitude6
rs80357750, also known as 220delC, c.101_101delC and p.Pro34Leufs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357750(;)
Alt rs80357750(;)
Reference rs80357750(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.41267776delG
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000047312.2, RCV000111768.1,