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rs80359754

From SNPedia

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


Make rs80359754(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32394707
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359754
ebirs80359754
HLIrs80359754
Exacrs80359754
Varsomers80359754
Maprs80359754
PheGenIrs80359754
hapmaprs80359754
1000 genomesrs80359754
hgdprs80359754
ensemblrs80359754
gopubmedrs80359754
geneviewrs80359754
scholarrs80359754
googlers80359754
pharmgkbrs80359754
gwascentralrs80359754
openSNPrs80359754
23andMers80359754
23andMe allrs80359754
SNP Nexus

SNPshotrs80359754
SNPdbers80359754
MSV3drs80359754
GWAS Ctlgrs80359754
Max Magnitude6
rs80359754, also known as 9503del4, c.9275_9278delATTT and p.Tyr3092_Leu3093?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359754(;)
Alt rs80359754(;)
Reference rs80359754(TATT;TATT)
Significance Pathogenic
Disease Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer
Variation info
Gene BRCA2
CLNDBN Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer, familial 2
Reversed 0
HGVS NC_000013.10:g.32968844_32968847delATTT
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000045776.3, RCV000083158.3,