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rs80359539

From SNPedia

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


Make rs80359539(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32340175
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359539
ebirs80359539
HLIrs80359539
Exacrs80359539
Varsomers80359539
Maprs80359539
PheGenIrs80359539
hapmaprs80359539
1000 genomesrs80359539
hgdprs80359539
ensemblrs80359539
gopubmedrs80359539
geneviewrs80359539
scholarrs80359539
googlers80359539
pharmgkbrs80359539
gwascentralrs80359539
openSNPrs80359539
23andMers80359539
23andMe allrs80359539
SNP Nexus

SNPshotrs80359539
SNPdbers80359539
MSV3drs80359539
GWAS Ctlgrs80359539
Max Magnitude6
rs80359539, also known as 6048del14, c.5820_5833del and p.Glu1940_Ile1945?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359539(;)
Alt rs80359539(;)
Reference rs80359539(AGAAAGTTTCTAAA;AGAAAGTTTCTAAA)
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.32914312_32914325delGAAAGTTTCTAAAA
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000044764.2, RCV000113488.1,