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rs80359755

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 rs80359755(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32332408
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359755
ebirs80359755
HLIrs80359755
Exacrs80359755
Varsomers80359755
Maprs80359755
PheGenIrs80359755
hapmaprs80359755
1000 genomesrs80359755
hgdprs80359755
ensemblrs80359755
gopubmedrs80359755
geneviewrs80359755
scholarrs80359755
googlers80359755
pharmgkbrs80359755
gwascentralrs80359755
openSNPrs80359755
23andMers80359755
23andMe allrs80359755
SNP Nexus

SNPshotrs80359755
SNPdbers80359755
MSV3drs80359755
GWAS Ctlgrs80359755
Max Magnitude6
rs80359755, also known as 1158delAT, c.930_931delAT and p.Leu310_Cys311LeuPhefs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359755(;)
Alt rs80359755(;)
Reference rs80359755(TA;TA)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer Hereditary cancer-predisposing syndrome
Variation info
Gene BRCA2
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 2 Hereditary cancer-predisposing syndrome
Reversed 0
HGVS NC_000013.10:g.32906545_32906546delAT
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000045790.2, RCV000112865.1, RCV000131853.2,