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rs80359448

From SNPedia

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


Make rs80359448(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32338804
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359448
ClinGenrs80359448
ebirs80359448
HLIrs80359448
Exacrs80359448
Varsomers80359448
Maprs80359448
PheGenIrs80359448
hapmaprs80359448
1000 genomesrs80359448
hgdprs80359448
ensemblrs80359448
gopubmedrs80359448
geneviewrs80359448
scholarrs80359448
googlers80359448
pharmgkbrs80359448
gwascentralrs80359448
openSNPrs80359448
23andMers80359448
23andMe allrs80359448
SNP Nexus

SNPshotrs80359448
SNPdbers80359448
MSV3drs80359448
GWAS Ctlgrs80359448
Max Magnitude6
rs80359448, also known as 4677delA, c.4449_4449delA and p.Thr1483=fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359448(-;-)
Alt rs80359448(-;-)
Reference Rs80359448(A;A)
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.32912941delA
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000031485.6, RCV000044416.4, RCV000163360.2, RCV000412671.1,