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rs80359337

From SNPedia

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


Make rs80359337(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32336941
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359337
ebirs80359337
HLIrs80359337
Exacrs80359337
Varsomers80359337
Maprs80359337
PheGenIrs80359337
hapmaprs80359337
1000 genomesrs80359337
hgdprs80359337
ensemblrs80359337
gopubmedrs80359337
geneviewrs80359337
scholarrs80359337
googlers80359337
pharmgkbrs80359337
gwascentralrs80359337
openSNPrs80359337
23andMers80359337
23andMe allrs80359337
SNP Nexus

SNPshotrs80359337
SNPdbers80359337
MSV3drs80359337
GWAS Ctlgrs80359337
Max Magnitude6
rs80359337, also known as 2814del7, c.2586_2592delAAATCAA and p.Lys862_Gln864?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359337(;)
Alt rs80359337(;)
Reference rs80359337(AAAAATC;AAAAATC)
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.32911078_32911084delAAATCAA
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000044018.2, RCV000113066.2,