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rs80359549

From SNPedia

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


Make rs80359549(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32340301
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359549
ebirs80359549
HLIrs80359549
Exacrs80359549
Varsomers80359549
Maprs80359549
PheGenIrs80359549
hapmaprs80359549
1000 genomesrs80359549
hgdprs80359549
ensemblrs80359549
gopubmedrs80359549
geneviewrs80359549
scholarrs80359549
googlers80359549
pharmgkbrs80359549
gwascentralrs80359549
openSNPrs80359549
23andMers80359549
23andMe allrs80359549
SNP Nexus

SNPshotrs80359549
SNPdbers80359549
MSV3drs80359549
GWAS Ctlgrs80359549
Max Magnitude6
rs80359549, also known as 6174del4, c.5946_5949delTGGA and p.Ser1982_Gly1983?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359549(;)
Alt rs80359549(;)
Reference rs80359549(TGGA;TGGA)
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.32914438_32914441delTGGA
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000044798.2, RCV000113508.1,