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rs80359591

From SNPedia

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


Make rs80359591(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32340799
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359591
ebirs80359591
HLIrs80359591
Exacrs80359591
Varsomers80359591
Maprs80359591
PheGenIrs80359591
hapmaprs80359591
1000 genomesrs80359591
hgdprs80359591
ensemblrs80359591
gopubmedrs80359591
geneviewrs80359591
scholarrs80359591
googlers80359591
pharmgkbrs80359591
gwascentralrs80359591
openSNPrs80359591
23andMers80359591
23andMe allrs80359591
SNP Nexus

SNPshotrs80359591
SNPdbers80359591
MSV3drs80359591
GWAS Ctlgrs80359591
Max Magnitude6
rs80359591, also known as 6672del4, c.6444_6447delTATT and p.Ser2148_Ile2149?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359591(;)
Alt rs80359591(;)
Reference rs80359591(TATT;TATT)
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.32914936_32914939delTATT
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000044951.2, RCV000113589.1,