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rs80359498

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;GTAA) 6 BRCA2 variant considered pathogenic for breast cancer
(TAAG;TAAG) 0 common in clinvar
Make rs80359498(-;-)
Make rs80359498(GTAA;GTAA)
ReferenceGRCh38 38.1/142
Chromosome13
Position32339577
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359498
ebirs80359498
HLIrs80359498
Exacrs80359498
Varsomers80359498
Maprs80359498
PheGenIrs80359498
hapmaprs80359498
1000 genomesrs80359498
hgdprs80359498
ensemblrs80359498
gopubmedrs80359498
geneviewrs80359498
scholarrs80359498
googlers80359498
pharmgkbrs80359498
gwascentralrs80359498
openSNPrs80359498
23andMers80359498
23andMe allrs80359498
SNP Nexus

SNPshotrs80359498
SNPdbers80359498
MSV3drs80359498
GWAS Ctlgrs80359498
Max Magnitude6
rs80359498, also known as 5450del4, c.5222_5225delGTAA and p.Ser1741_Asn1742?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359498(;)
Alt rs80359498(;)
Reference rs80359498(TAAG;TAAG)
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.32913714_32913717delGTAA
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000113407.1, RCV000160295.1,