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rs80359535

From SNPedia

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


Make rs80359535(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32340126
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359535
ebirs80359535
HLIrs80359535
Exacrs80359535
Varsomers80359535
Maprs80359535
PheGenIrs80359535
hapmaprs80359535
1000 genomesrs80359535
hgdprs80359535
ensemblrs80359535
gopubmedrs80359535
geneviewrs80359535
scholarrs80359535
googlers80359535
pharmgkbrs80359535
gwascentralrs80359535
openSNPrs80359535
23andMers80359535
23andMe allrs80359535
SNP Nexus

SNPshotrs80359535
SNPdbers80359535
MSV3drs80359535
GWAS Ctlgrs80359535
Max Magnitude6
rs80359535, also known as 5999del4, c.5771_5774delTTCA and p.Ile1924_Gln1925?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359535(;)
Alt rs80359535(;)
Reference rs80359535(CATT;CATT)
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.32914263_32914266delTTCA
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000044749.2, RCV000113481.1,