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rs80359497

From SNPedia

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


Make rs80359497(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32339572
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359497
ebirs80359497
HLIrs80359497
Exacrs80359497
Varsomers80359497
Maprs80359497
PheGenIrs80359497
hapmaprs80359497
1000 genomesrs80359497
hgdprs80359497
ensemblrs80359497
gopubmedrs80359497
geneviewrs80359497
scholarrs80359497
googlers80359497
pharmgkbrs80359497
gwascentralrs80359497
openSNPrs80359497
23andMers80359497
23andMe allrs80359497
SNP Nexus

SNPshotrs80359497
SNPdbers80359497
MSV3drs80359497
GWAS Ctlgrs80359497
Max Magnitude6
rs80359497, also known as 5445del8, c.5217_5224delTTTAAGTA and p.Tyr1739_Asn1742?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359497(;)
Alt rs80359497(;)
Reference rs80359497(TATTTAAG;TATTTAAG)
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.32913709_32913716delTTTAAGTA
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000044614.2, RCV000113402.1,