Have questions? Visit https://www.reddit.com/r/SNPedia

rs863223797

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;C) 7.7 Thoracic aortic aneurysm (potential causative mutation)
(C;C) 0 common in clinvar


Make rs863223797(-;-)
ReferenceGRCh38.p2 38.2/146
Chromosome1
Position218405178
GeneTGFB2
is asnp
is mentioned by
dbSNPrs863223797
dbSNP (old)rs863223797
ClinGenrs863223797
ebirs863223797
HLIrs863223797
Exacrs863223797
Gnomadrs863223797
Varsomers863223797
Maprs863223797
PheGenIrs863223797
Biobankrs863223797
1000 genomesrs863223797
hgdprs863223797
ensemblrs863223797
gopubmedrs863223797
geneviewrs863223797
scholarrs863223797
googlers863223797
pharmgkbrs863223797
gwascentralrs863223797
openSNPrs863223797
23andMers863223797
23andMe allrs863223797
SNP Nexus

SNPshotrs863223797
SNPdbers863223797
MSV3drs863223797
GWAS Ctlgrs863223797
Max Magnitude7.7

aka c.356delC (p.Pro119Argfs)

Denoted as pathogenic in ClinVar, based on GeneDx information. Independently, in [PMID 26846766], along with one other 'suspicious' mutation, rs757309797, this mutation was observed in the genome of an otherwise healthy young adult who died suddenly.


ClinVar
Risk rs863223797(-;-)
Alt rs863223797(-;-)
Reference Rs863223797(C;C)
Significance Pathogenic
Disease not provided
Variation info
Gene TGFB2
CLNDBN not provided
Reversed 0
HGVS NC_000001.10:g.218578520delC
CLNSRC
CLNACC RCV000198360.1,