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rs80359554

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
(-;G) 6 BRCA2 variant considered pathogenic for breast cancer
Make rs80359554(-;-)
Make rs80359554(G;G)
ReferenceGRCh38 38.1/141
Chromosome13
Position32340379
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359554
ebirs80359554
HLIrs80359554
Exacrs80359554
Varsomers80359554
Maprs80359554
PheGenIrs80359554
hapmaprs80359554
1000 genomesrs80359554
hgdprs80359554
ensemblrs80359554
gopubmedrs80359554
geneviewrs80359554
scholarrs80359554
googlers80359554
pharmgkbrs80359554
gwascentralrs80359554
openSNPrs80359554
23andMers80359554
23andMe allrs80359554
SNP Nexus

SNPshotrs80359554
SNPdbers80359554
MSV3drs80359554
GWAS Ctlgrs80359554
Max Magnitude6
rs80359554, also known as 6252insG, c.6024_6025insG and p.Lys2008_Gln2009?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359554(G;G)
Alt rs80359554(G;G)
Reference rs80359554(;)
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.32914516dupG
CLNSRC Breast Cancer Information Core (BRCA2) Inc.
CLNACC RCV000031596.4, RCV000044820.3, RCV000131918.3,