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rs80359396

From SNPedia

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


Make rs80359396(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32338037
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359396
ebirs80359396
HLIrs80359396
Exacrs80359396
Varsomers80359396
Maprs80359396
PheGenIrs80359396
hapmaprs80359396
1000 genomesrs80359396
hgdprs80359396
ensemblrs80359396
gopubmedrs80359396
geneviewrs80359396
scholarrs80359396
googlers80359396
pharmgkbrs80359396
gwascentralrs80359396
openSNPrs80359396
23andMers80359396
23andMe allrs80359396
SNP Nexus

SNPshotrs80359396
SNPdbers80359396
MSV3drs80359396
GWAS Ctlgrs80359396
Max Magnitude6
rs80359396, also known as 3910del4, c.3682_3685delAATG and p.Asn1228_Val1229?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359396(;)
Alt rs80359396(;)
Reference rs80359396(TGAA;TGAA)
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.32912174_32912177delAATG
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000044243.2, RCV000113206.1,