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rs863225082

From SNPedia

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


Make rs863225082(A;A)
ReferenceGRCh38.p2 38.2/146
Chromosome6
Position43007265
GeneMEA1, PPP2R5D
is asnp
is mentioned by
dbSNPrs863225082
dbSNP (old)rs863225082
ClinGenrs863225082
ebirs863225082
HLIrs863225082
Exacrs863225082
Varsomers863225082
Maprs863225082
PheGenIrs863225082
Biobankrs863225082
1000 genomesrs863225082
hgdprs863225082
ensemblrs863225082
gopubmedrs863225082
geneviewrs863225082
scholarrs863225082
googlers863225082
pharmgkbrs863225082
gwascentralrs863225082
openSNPrs863225082
23andMers863225082
23andMe allrs863225082
SNP Nexus

SNPshotrs863225082
SNPdbers863225082
MSV3drs863225082
GWAS Ctlgrs863225082
Max Magnitude8

PPP2R5D gene, aka c.592G>A, p.Glu198Lys and E198K

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 rs863225082(A;A)
Alt rs863225082(A;A)
Reference Rs863225082(G;G)
Significance Pathogenic
Disease Mental retardation not provided
Variation info
Gene PPP2R5D MEA1
CLNDBN Mental retardation, autosomal dominant 35 not provided
Reversed 0
HGVS NC_000006.11:g.42975003G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000170482.5, RCV000202079.1,