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rs80359501

From SNPedia

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


Make rs80359501(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32339621
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359501
ebirs80359501
HLIrs80359501
Exacrs80359501
Varsomers80359501
Maprs80359501
PheGenIrs80359501
hapmaprs80359501
1000 genomesrs80359501
hgdprs80359501
ensemblrs80359501
gopubmedrs80359501
geneviewrs80359501
scholarrs80359501
googlers80359501
pharmgkbrs80359501
gwascentralrs80359501
openSNPrs80359501
23andMers80359501
23andMe allrs80359501
SNP Nexus

SNPshotrs80359501
SNPdbers80359501
MSV3drs80359501
GWAS Ctlgrs80359501
Max Magnitude6
rs80359501, also known as 5494del4, c.5266_5269delGTAT and p.Val1756_Tyr1757?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359501(;)
Alt rs80359501(;)
Reference rs80359501(GTAT;GTAT)
Significance Pathogenic
Disease Breast-ovarian cancer Familial cancer of breast
Variation info
Gene BRCA2
CLNDBN Breast-ovarian cancer, familial 2 Familial cancer of breast
Reversed 0
HGVS NC_000013.10:g.32913758_32913761delGTAT
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000031536.4, RCV000044623.2,