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rs80359364

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;TGAATATAGAT) 6 BRCA2 variant considered pathogenic for breast cancer
(TTGAATATAGA;TTGAATATAGA) 0 common in clinvar
Make rs80359364(-;-)
Make rs80359364(TGAATATAGAT;TGAATATAGAT)
ReferenceGRCh38 38.1/142
Chromosome13
Position32337285
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359364
ebirs80359364
HLIrs80359364
Exacrs80359364
Varsomers80359364
Maprs80359364
PheGenIrs80359364
hapmaprs80359364
1000 genomesrs80359364
hgdprs80359364
ensemblrs80359364
gopubmedrs80359364
geneviewrs80359364
scholarrs80359364
googlers80359364
pharmgkbrs80359364
gwascentralrs80359364
openSNPrs80359364
23andMers80359364
23andMe allrs80359364
SNP Nexus

SNPshotrs80359364
SNPdbers80359364
MSV3drs80359364
GWAS Ctlgrs80359364
Max Magnitude6
rs80359364, also known as 3158del11, c.2930_2940del and p.Leu977_Asp980?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359364(;)
Alt rs80359364(;)
Reference rs80359364(TTGAATATAGA;TTGAATATAGA)
Significance Pathogenic
Disease Breast-ovarian cancer
Variation info
Gene BRCA2
CLNDBN Breast-ovarian cancer, familial 2
Reversed 0
HGVS NC_000013.10:g.32911422_32911432delTGAATATAGAT
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000113117.1,