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rs80359634

From SNPedia

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


Make rs80359634(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32354878
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359634
ebirs80359634
HLIrs80359634
Exacrs80359634
Varsomers80359634
Maprs80359634
PheGenIrs80359634
hapmaprs80359634
1000 genomesrs80359634
hgdprs80359634
ensemblrs80359634
gopubmedrs80359634
geneviewrs80359634
scholarrs80359634
googlers80359634
pharmgkbrs80359634
gwascentralrs80359634
openSNPrs80359634
23andMers80359634
23andMe allrs80359634
SNP Nexus

SNPshotrs80359634
SNPdbers80359634
MSV3drs80359634
GWAS Ctlgrs80359634
Max Magnitude6
rs80359634, also known as 7253delAA, c.7025_7026delAA and p.Gln2342Argfs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359634(;)
Alt rs80359634(;)
Reference rs80359634(AA;AA)
Significance Pathogenic
Disease Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer
Variation info
Gene BRCA2
CLNDBN Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer, familial 2
Reversed 0
HGVS NC_000013.10:g.32929015_32929016delAA
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000045123.3, RCV000077397.3,