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rs80359699

From SNPedia

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


Make rs80359699(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32363436
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359699
ebirs80359699
HLIrs80359699
Exacrs80359699
Varsomers80359699
Maprs80359699
PheGenIrs80359699
hapmaprs80359699
1000 genomesrs80359699
hgdprs80359699
ensemblrs80359699
gopubmedrs80359699
geneviewrs80359699
scholarrs80359699
googlers80359699
pharmgkbrs80359699
gwascentralrs80359699
openSNPrs80359699
23andMers80359699
23andMe allrs80359699
SNP Nexus

SNPshotrs80359699
SNPdbers80359699
MSV3drs80359699
GWAS Ctlgrs80359699
Max Magnitude6
rs80359699, also known as 8462del4, c.8234_8237delTGAC and p.Leu2745_Thr2746?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359699(;)
Alt rs80359699(;)
Reference rs80359699(GACT;GACT)
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.32937573_32937576delTGAC
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000045457.2, RCV000113893.1,