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

rs80359426

From SNPedia

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


Make rs80359426(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32338447
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359426
ebirs80359426
HLIrs80359426
Exacrs80359426
Varsomers80359426
Maprs80359426
PheGenIrs80359426
hapmaprs80359426
1000 genomesrs80359426
hgdprs80359426
ensemblrs80359426
gopubmedrs80359426
geneviewrs80359426
scholarrs80359426
googlers80359426
pharmgkbrs80359426
gwascentralrs80359426
openSNPrs80359426
23andMers80359426
23andMe allrs80359426
SNP Nexus

SNPshotrs80359426
SNPdbers80359426
MSV3drs80359426
GWAS Ctlgrs80359426
Max Magnitude6
rs80359426, also known as 4320delAT, c.4092_4093delAT and p.Ile1364_Cys1365MetSerfs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359426(;)
Alt rs80359426(;)
Reference rs80359426(AT;AT)
Significance Pathogenic
Disease Breast-ovarian cancer Familial cancer of breast Hereditary cancer-predisposing syndrome
Variation info
Gene BRCA2
CLNDBN Breast-ovarian cancer, familial 2 Familial cancer of breast Hereditary cancer-predisposing syndrome
Reversed 0
HGVS NC_000013.10:g.32912584_32912585delAT
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000031458.4, RCV000044345.2, RCV000162920.1,