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rs80359420

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
(-;CATC) 6 BRCA2 variant considered pathogenic for breast cancer
Make rs80359420(-;-)
Make rs80359420(CATC;CATC)
ReferenceGRCh38 38.1/142
Chromosome13
Position32338363
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359420
ebirs80359420
HLIrs80359420
Exacrs80359420
Varsomers80359420
Maprs80359420
PheGenIrs80359420
hapmaprs80359420
1000 genomesrs80359420
hgdprs80359420
ensemblrs80359420
gopubmedrs80359420
geneviewrs80359420
scholarrs80359420
googlers80359420
pharmgkbrs80359420
gwascentralrs80359420
openSNPrs80359420
23andMers80359420
23andMe allrs80359420
SNP Nexus

SNPshotrs80359420
SNPdbers80359420
MSV3drs80359420
GWAS Ctlgrs80359420
Max Magnitude6
rs80359420, also known as 4236ins4, c.4008_4009insCATC and p.Phe1336_Asp1337?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359420(CATC;CATC)
Alt rs80359420(CATC;CATC)
Reference rs80359420(;)
Significance Pathogenic
Disease Breast-ovarian cancer
Variation info
Gene BRCA2
CLNDBN Breast-ovarian cancer, familial 2
Reversed 0
HGVS NC_000013.10:g.32912500_32912501insCATC
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000113259.1,