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rs80359769

From SNPedia

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


Make rs80359769(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32396909
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359769
ebirs80359769
HLIrs80359769
Exacrs80359769
Varsomers80359769
Maprs80359769
PheGenIrs80359769
hapmaprs80359769
1000 genomesrs80359769
hgdprs80359769
ensemblrs80359769
gopubmedrs80359769
geneviewrs80359769
scholarrs80359769
googlers80359769
pharmgkbrs80359769
gwascentralrs80359769
openSNPrs80359769
23andMers80359769
23andMe allrs80359769
SNP Nexus

SNPshotrs80359769
SNPdbers80359769
MSV3drs80359769
GWAS Ctlgrs80359769
Max Magnitude6
rs80359769, also known as 9741del4, c.9513_9516delACTT and p.Ile3171_Leu3172?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359769(;)
Alt rs80359769(;)
Reference rs80359769(TACT;TACT)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer not provided
Variation info
Gene BRCA2
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 2 not provided
Reversed 0
HGVS NC_000013.10:g.32971046_32971049delACTT
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000045848.2, RCV000114129.1, RCV000237083.1,