Have questions? Visit https://www.reddit.com/r/SNPedia

rs80359446

From SNPedia

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


Make rs80359446(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32338764
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359446
ebirs80359446
HLIrs80359446
Exacrs80359446
Varsomers80359446
Maprs80359446
PheGenIrs80359446
hapmaprs80359446
1000 genomesrs80359446
hgdprs80359446
ensemblrs80359446
gopubmedrs80359446
geneviewrs80359446
scholarrs80359446
googlers80359446
pharmgkbrs80359446
gwascentralrs80359446
openSNPrs80359446
23andMers80359446
23andMe allrs80359446
SNP Nexus

SNPshotrs80359446
SNPdbers80359446
MSV3drs80359446
GWAS Ctlgrs80359446
Max Magnitude6
rs80359446, also known as 4637delTA, c.4409_4410delTA and p.Ile1470Lysfs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359446(;)
Alt rs80359446(;)
Reference rs80359446(AT;AT)
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.32912901_32912902delTA
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000044406.2, RCV000113300.1,