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rs80357664

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;AG) 6 BRCA1 variant considered pathogenic for breast cancer
(AG;AG) 0 Normal


Make rs80357664(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43093119
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357664
ebirs80357664
HLIrs80357664
Exacrs80357664
Varsomers80357664
Maprs80357664
PheGenIrs80357664
hapmaprs80357664
1000 genomesrs80357664
hgdprs80357664
ensemblrs80357664
gopubmedrs80357664
geneviewrs80357664
scholarrs80357664
googlers80357664
pharmgkbrs80357664
gwascentralrs80357664
openSNPrs80357664
23andMers80357664
23andMe allrs80357664
SNP Nexus

SNPshotrs80357664
SNPdbers80357664
MSV3drs80357664
GWAS Ctlgrs80357664
Max Magnitude6
rs80357664, also known as 2530delAG, c.2411_2412delAG and p.Gln804Leufs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357664(;)
Alt rs80357664(;)
Reference rs80357664(AG;AG)
Significance Pathogenic
Disease Breast-ovarian cancer Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome not provided not specified
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1 Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome not provided not specified
Reversed 1
HGVS NC_000017.10:g.41245136_41245137delCT
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000031047.6, RCV000047829.3, RCV000131426.2, RCV000159906.2, RCV000238967.1,