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rs863225079

From SNPedia

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


Make rs863225079(A;A)
ReferenceGRCh38.p2 38.2/146
Chromosome6
Position43007271
GeneMEA1, PPP2R5D
is asnp
is mentioned by
dbSNPrs863225079
dbSNP (old)rs863225079
ClinGenrs863225079
ebirs863225079
HLIrs863225079
Exacrs863225079
Varsomers863225079
Maprs863225079
PheGenIrs863225079
Biobankrs863225079
1000 genomesrs863225079
hgdprs863225079
ensemblrs863225079
gopubmedrs863225079
geneviewrs863225079
scholarrs863225079
googlers863225079
pharmgkbrs863225079
gwascentralrs863225079
openSNPrs863225079
23andMers863225079
23andMe allrs863225079
SNP Nexus

SNPshotrs863225079
SNPdbers863225079
MSV3drs863225079
GWAS Ctlgrs863225079
Max Magnitude8

PPP2R5D gene, aka c.598G>A, p.Glu200Lys and E200K

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 rs863225079(A;A)
Alt rs863225079(A;A)
Reference Rs863225079(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.42975009G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000201454.1, RCV000202069.1,