Have questions? Visit https://www.reddit.com/r/SNPedia

rs80359439

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
(-;T) 6 BRCA2 variant considered pathogenic for breast cancer
Make rs80359439(-;-)
Make rs80359439(T;T)
ReferenceGRCh38 38.1/142
Chromosome13
Position32338637
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359439
ebirs80359439
HLIrs80359439
Exacrs80359439
Varsomers80359439
Maprs80359439
PheGenIrs80359439
hapmaprs80359439
1000 genomesrs80359439
hgdprs80359439
ensemblrs80359439
gopubmedrs80359439
geneviewrs80359439
scholarrs80359439
googlers80359439
pharmgkbrs80359439
gwascentralrs80359439
openSNPrs80359439
23andMers80359439
23andMe allrs80359439
SNP Nexus

SNPshotrs80359439
SNPdbers80359439
MSV3drs80359439
GWAS Ctlgrs80359439
Max Magnitude6
rs80359439, also known as 4510insT, c.4282_4283insT and p.Phe1428?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359439(T;T)
Alt rs80359439(T;T)
Reference rs80359439(;)
Significance Other
Disease Breast-ovarian cancer Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome not provided
Variation info
Gene BRCA2
CLNDBN Breast-ovarian cancer, familial 2 Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome not provided
Reversed 0
HGVS NC_000013.10:g.32912776dupT
CLNSRC Breast Cancer Information Core (BRCA2) Inc.
CLNACC RCV000031473.8, RCV000044387.5, RCV000130074.3, RCV000160287.2,