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rs80359417

From SNPedia

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


Make rs80359417(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32338311
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359417
ebirs80359417
HLIrs80359417
Exacrs80359417
Varsomers80359417
Maprs80359417
PheGenIrs80359417
hapmaprs80359417
1000 genomesrs80359417
hgdprs80359417
ensemblrs80359417
gopubmedrs80359417
geneviewrs80359417
scholarrs80359417
googlers80359417
pharmgkbrs80359417
gwascentralrs80359417
openSNPrs80359417
23andMers80359417
23andMe allrs80359417
SNP Nexus

SNPshotrs80359417
SNPdbers80359417
MSV3drs80359417
GWAS Ctlgrs80359417
Max Magnitude6
rs80359417, also known as 4184del4, c.3956_3959delATGA and p.Asn1319_Glu1320?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359417(;)
Alt rs80359417(;)
Reference rs80359417(AATG;AATG)
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.32912448_32912451delATGA
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000044320.2, RCV000113250.1,