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rs80359551

From SNPedia

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


Make rs80359551(-;-)
ReferenceGRCh38 38.1/142
Chromosome13
Position32340308
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359551
ebirs80359551
HLIrs80359551
Exacrs80359551
Varsomers80359551
Maprs80359551
PheGenIrs80359551
hapmaprs80359551
1000 genomesrs80359551
hgdprs80359551
ensemblrs80359551
gopubmedrs80359551
geneviewrs80359551
scholarrs80359551
googlers80359551
pharmgkbrs80359551
gwascentralrs80359551
openSNPrs80359551
23andMers80359551
23andMe allrs80359551
SNP Nexus

SNPshotrs80359551
SNPdbers80359551
MSV3drs80359551
GWAS Ctlgrs80359551
Max Magnitude6
rs80359551, also known as 6181delTC, c.5953_5954delTC and p.Ser1985Cysfs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359551(;)
Alt rs80359551(;)
Reference rs80359551(TC;TC)
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.32914446_32914447delCT
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000044802.2, RCV000113509.1,