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rs80359403

From SNPedia

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


Make rs80359403(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32338099
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359403
ebirs80359403
HLIrs80359403
Exacrs80359403
Varsomers80359403
Maprs80359403
PheGenIrs80359403
hapmaprs80359403
1000 genomesrs80359403
hgdprs80359403
ensemblrs80359403
gopubmedrs80359403
geneviewrs80359403
scholarrs80359403
googlers80359403
pharmgkbrs80359403
gwascentralrs80359403
openSNPrs80359403
23andMers80359403
23andMe allrs80359403
SNP Nexus

SNPshotrs80359403
SNPdbers80359403
MSV3drs80359403
GWAS Ctlgrs80359403
Max Magnitude6
rs80359403, also known as 3972del4, c.3744_3747delTGAG and p.Ser1248_Glu1249?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359403(;)
Alt rs80359403(;)
Reference rs80359403(AGTG;AGTG)
Significance Pathogenic
Disease Breast-ovarian cancer Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome
Variation info
Gene BRCA2
CLNDBN Breast-ovarian cancer, familial 2 Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome
Reversed 0
HGVS NC_000013.10:g.32912236_32912239delTGAG
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000031437.5, RCV000044254.3, RCV000131096.2,