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rs80359592

From SNPedia

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


Make rs80359592(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32340800
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359592
ebirs80359592
HLIrs80359592
Exacrs80359592
Varsomers80359592
Maprs80359592
PheGenIrs80359592
hapmaprs80359592
1000 genomesrs80359592
hgdprs80359592
ensemblrs80359592
gopubmedrs80359592
geneviewrs80359592
scholarrs80359592
googlers80359592
pharmgkbrs80359592
gwascentralrs80359592
openSNPrs80359592
23andMers80359592
23andMe allrs80359592
SNP Nexus

SNPshotrs80359592
SNPdbers80359592
MSV3drs80359592
GWAS Ctlgrs80359592
Max Magnitude6
rs80359592, also known as 6673delAT, c.6445_6446delAT and p.Ile2149Terfs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359592(;)
Alt rs80359592(;)
Reference rs80359592(TA;TA)
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.32914937_32914938delAT
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000044953.2, RCV000113590.1,