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rs863225080

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;G) 8 Neurodevelopmental disorder-associated mutation
(G;G) 0 common in clinvar


Make rs863225080(A;A)
ReferenceGRCh38.p2 38.2/146
Chromosome6
Position43009328
GeneMEA1, PPP2R5D
is asnp
is mentioned by
dbSNPrs863225080
dbSNP (old)rs863225080
ClinGenrs863225080
ebirs863225080
HLIrs863225080
Exacrs863225080
Varsomers863225080
Maprs863225080
PheGenIrs863225080
Biobankrs863225080
1000 genomesrs863225080
hgdprs863225080
ensemblrs863225080
gopubmedrs863225080
geneviewrs863225080
scholarrs863225080
googlers863225080
pharmgkbrs863225080
gwascentralrs863225080
openSNPrs863225080
23andMers863225080
23andMe allrs863225080
SNP Nexus

SNPshotrs863225080
SNPdbers863225080
MSV3drs863225080
GWAS Ctlgrs863225080
Max Magnitude8

PPP2R5D gene, aka c.1258G>A, p.Glu420Lys and E420K

Considered to be a de novo (dominant) missense variant associated with intellectual disability, macrocephaly, hypotonia, and autism; see ClinVar and [PMID 26576547OA-icon.png] as well as links on PPP2R5D page


ClinVar
Risk rs863225080(A;A)
Alt rs863225080(A;A)
Reference Rs863225080(G;G)
Significance Pathogenic
Disease not provided
Variation info
Gene PPP2R5D MEA1
CLNDBN not provided
Reversed 0
HGVS NC_000006.11:g.42977066G>A
CLNSRC
CLNACC RCV000202211.1,