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rs80359743

From SNPedia

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


Make rs80359743(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32379850
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359743
ebirs80359743
HLIrs80359743
Exacrs80359743
Varsomers80359743
Maprs80359743
PheGenIrs80359743
hapmaprs80359743
1000 genomesrs80359743
hgdprs80359743
ensemblrs80359743
gopubmedrs80359743
geneviewrs80359743
scholarrs80359743
googlers80359743
pharmgkbrs80359743
gwascentralrs80359743
openSNPrs80359743
23andMers80359743
23andMe allrs80359743
SNP Nexus

SNPshotrs80359743
SNPdbers80359743
MSV3drs80359743
GWAS Ctlgrs80359743
Max Magnitude6
rs80359743, also known as 9282delTA, c.9054_9055delTA and p.Ser3018_Lys3019ArgIlefs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359743(;)
Alt rs80359743(;)
Reference rs80359743(TA;TA)
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.32953987_32953988delTA
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000045697.2, RCV000114036.1,