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rs80357650

From SNPedia

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


Make rs80357650(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43093290
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357650
ebirs80357650
HLIrs80357650
Exacrs80357650
Varsomers80357650
Maprs80357650
PheGenIrs80357650
hapmaprs80357650
1000 genomesrs80357650
hgdprs80357650
ensemblrs80357650
gopubmedrs80357650
geneviewrs80357650
scholarrs80357650
googlers80357650
pharmgkbrs80357650
gwascentralrs80357650
openSNPrs80357650
23andMers80357650
23andMe allrs80357650
SNP Nexus

SNPshotrs80357650
SNPdbers80357650
MSV3drs80357650
GWAS Ctlgrs80357650
Max Magnitude6
rs80357650, also known as 2360delC, c.2241_2241delC and p.Pro747=fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357650(;)
Alt rs80357650(;)
Reference rs80357650(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.41245307delG
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000047770.2, RCV000077512.3,