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rs80359266

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
(-;TTAG) 6 BRCA2 variant considered pathogenic for breast cancer
Make rs80359266(-;-)
Make rs80359266(TTAG;TTAG)
ReferenceGRCh38 38.1/142
Chromosome13
Position32332668
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359266
ebirs80359266
HLIrs80359266
Exacrs80359266
Varsomers80359266
Maprs80359266
PheGenIrs80359266
hapmaprs80359266
1000 genomesrs80359266
hgdprs80359266
ensemblrs80359266
gopubmedrs80359266
geneviewrs80359266
scholarrs80359266
googlers80359266
pharmgkbrs80359266
gwascentralrs80359266
openSNPrs80359266
23andMers80359266
23andMe allrs80359266
SNP Nexus

SNPshotrs80359266
SNPdbers80359266
MSV3drs80359266
GWAS Ctlgrs80359266
Max Magnitude6
rs80359266, also known as 1418ins4, c.1190_1191insTTAG and p.Gln397?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359266(TTAG;TTAG)
Alt rs80359266(TTAG;TTAG)
Reference rs80359266(;)
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.32906805_32906806insTTAG
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000112890.1, RCV000160266.1,