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rs80359380

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
(-;T) 6 BRCA2 variant considered pathogenic for breast cancer
Make rs80359380(-;-)
Make rs80359380(T;T)
ReferenceGRCh38 38.1/141
Chromosome13
Position32337619
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359380
ebirs80359380
HLIrs80359380
Exacrs80359380
Varsomers80359380
Maprs80359380
PheGenIrs80359380
hapmaprs80359380
1000 genomesrs80359380
hgdprs80359380
ensemblrs80359380
gopubmedrs80359380
geneviewrs80359380
scholarrs80359380
googlers80359380
pharmgkbrs80359380
gwascentralrs80359380
openSNPrs80359380
23andMers80359380
23andMe allrs80359380
SNP Nexus

SNPshotrs80359380
SNPdbers80359380
MSV3drs80359380
GWAS Ctlgrs80359380
Max Magnitude6
rs80359380, also known as 3492insT, c.3264_3265insT and p.Pro1088_Gln1089?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359380(CT,CTT;CT,CTT)
Alt rs80359380(CT,CTT;CT,CTT)
Reference rs80359380(C;C)
Significance Other
Disease Familial cancer of breast Breast-ovarian cancer Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome
Variation info
Gene BRCA2
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 2 Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome
Reversed 0
HGVS NC_000013.10:g.32911756_32911757insTT; NC_000013.10:g.32911756dupT
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000044162.2, RCV000031411.6, RCV000044163.4, RCV000131493.2, RCV000203627.2,