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rs80359573

From SNPedia

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


Make rs80359573(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32340637
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359573
ebirs80359573
HLIrs80359573
Exacrs80359573
Varsomers80359573
Maprs80359573
PheGenIrs80359573
hapmaprs80359573
1000 genomesrs80359573
hgdprs80359573
ensemblrs80359573
gopubmedrs80359573
geneviewrs80359573
scholarrs80359573
googlers80359573
pharmgkbrs80359573
gwascentralrs80359573
openSNPrs80359573
23andMers80359573
23andMe allrs80359573
SNP Nexus

SNPshotrs80359573
SNPdbers80359573
MSV3drs80359573
GWAS Ctlgrs80359573
Max Magnitude6
rs80359573, also known as 6510del8, c.6282_6289delTTCACCTA and p.Tyr2094_Thr2097?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359573(;)
Alt rs80359573(;)
Reference rs80359573(CTATTCAC;CTATTCAC)
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.32914774_32914781delTTCACCTA
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000044888.2, RCV000113559.1,