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rs80359336

From SNPedia

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


Make rs80359336(-;-)
ReferenceGRCh38 38.1/142
Chromosome13
Position32336939
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359336
ebirs80359336
HLIrs80359336
Exacrs80359336
Varsomers80359336
Maprs80359336
PheGenIrs80359336
hapmaprs80359336
1000 genomesrs80359336
hgdprs80359336
ensemblrs80359336
gopubmedrs80359336
geneviewrs80359336
scholarrs80359336
googlers80359336
pharmgkbrs80359336
gwascentralrs80359336
openSNPrs80359336
23andMers80359336
23andMe allrs80359336
SNP Nexus

SNPshotrs80359336
SNPdbers80359336
MSV3drs80359336
GWAS Ctlgrs80359336
Max Magnitude6
rs80359336, also known as 2812del7, c.2584_2590delAAAAATC and p.Lys862_Gln864?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359336(;)
Alt rs80359336(;)
Reference rs80359336(AAAAATC;AAAAATC)
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.32911078_32911084delAAATCAA
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000044018.2, RCV000113066.2,