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rs80359735

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
(-;C) 6 BRCA2 variant considered pathogenic for breast cancer
Make rs80359735(-;-)
Make rs80359735(C;C)
ReferenceGRCh38 38.1/141
Chromosome13
Position32332375
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359735
ebirs80359735
HLIrs80359735
Exacrs80359735
Varsomers80359735
Maprs80359735
PheGenIrs80359735
hapmaprs80359735
1000 genomesrs80359735
hgdprs80359735
ensemblrs80359735
gopubmedrs80359735
geneviewrs80359735
scholarrs80359735
googlers80359735
pharmgkbrs80359735
gwascentralrs80359735
openSNPrs80359735
23andMers80359735
23andMe allrs80359735
SNP Nexus

SNPshotrs80359735
SNPdbers80359735
MSV3drs80359735
GWAS Ctlgrs80359735
Max Magnitude6
rs80359735, also known as 1125insC, c.897_898insC and p.Val299_Val300?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359735(C;C)
Alt rs80359735(C;C)
Reference rs80359735(;)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer
Variation info
Gene BRCA2
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 2
Reversed 0
HGVS NC_000013.10:g.32906512_32906513insC
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000045679.2, RCV000112860.1,