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rs80359629

From SNPedia

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


Make rs80359629(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32346833
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359629
ebirs80359629
HLIrs80359629
Exacrs80359629
Varsomers80359629
Maprs80359629
PheGenIrs80359629
hapmaprs80359629
1000 genomesrs80359629
hgdprs80359629
ensemblrs80359629
gopubmedrs80359629
geneviewrs80359629
scholarrs80359629
googlers80359629
pharmgkbrs80359629
gwascentralrs80359629
openSNPrs80359629
23andMers80359629
23andMe allrs80359629
SNP Nexus

SNPshotrs80359629
SNPdbers80359629
MSV3drs80359629
GWAS Ctlgrs80359629
Max Magnitude6
rs80359629, also known as 7172del4, c.6944_6947delTAAA and p.Ile2315_Lys2316?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359629(;)
Alt rs80359629(;)
Reference rs80359629(AATA;AATA)
Significance Pathogenic
Disease Breast-ovarian cancer Familial cancer of breast Hereditary cancer-predisposing syndrome not provided
Variation info
Gene BRCA2
CLNDBN Breast-ovarian cancer, familial 2 Familial cancer of breast Hereditary cancer-predisposing syndrome not provided
Reversed 0
HGVS NC_000013.10:g.32920970_32920973delTAAA
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000031657.8, RCV000045094.4, RCV000131028.2, RCV000212255.2,