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rs80359572

From SNPedia

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


Make rs80359572(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32340635
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359572
ebirs80359572
HLIrs80359572
Exacrs80359572
Varsomers80359572
Maprs80359572
PheGenIrs80359572
hapmaprs80359572
1000 genomesrs80359572
hgdprs80359572
ensemblrs80359572
gopubmedrs80359572
geneviewrs80359572
scholarrs80359572
googlers80359572
pharmgkbrs80359572
gwascentralrs80359572
openSNPrs80359572
23andMers80359572
23andMe allrs80359572
SNP Nexus

SNPshotrs80359572
SNPdbers80359572
MSV3drs80359572
GWAS Ctlgrs80359572
Max Magnitude6
rs80359572, also known as 6508del7, c.6280_6286delTATTCAC and p.Tyr2094_Pro2096?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359572(;)
Alt rs80359572(;)
Reference rs80359572(TTCACTA;TTCACTA)
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.32914772_32914778delTATTCAC
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000044886.2, RCV000113558.1,