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rs80359649

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;CAAAGTGTGA) 6 BRCA2 variant considered pathogenic for breast cancer
(ACAAAGTGTG;ACAAAGTGTG) 0 common in clinvar
(CAAAGTGTGA;CAAAGTGTGA) 0 common in clinvar


Make rs80359649(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32355265
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359649
ebirs80359649
HLIrs80359649
Exacrs80359649
Varsomers80359649
Maprs80359649
PheGenIrs80359649
hapmaprs80359649
1000 genomesrs80359649
hgdprs80359649
ensemblrs80359649
gopubmedrs80359649
geneviewrs80359649
scholarrs80359649
googlers80359649
pharmgkbrs80359649
gwascentralrs80359649
openSNPrs80359649
23andMers80359649
23andMe allrs80359649
SNP Nexus

SNPshotrs80359649
SNPdbers80359649
MSV3drs80359649
GWAS Ctlgrs80359649
Max Magnitude6
rs80359649, also known as 7640del10, c.7412_7421delCAAAGTGTGA and p.Thr2471_Glu2474?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359649(;)
Alt rs80359649(;)
Reference rs80359649(ACAAAGTGTG;ACAAAGTGTG)
Significance Pathogenic
Disease Breast-ovarian cancer Familial cancer of breast
Variation info
Gene BRCA2
CLNDBN Breast-ovarian cancer, familial 2 Familial cancer of breast
Reversed 0
HGVS NC_000013.10:g.32929402_32929411delCAAAGTGTGA
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000031675.4, RCV000045202.2,