rs863225082

plus

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

Make rs863225082(A;A)

Reference

GRCh38.p2 38.2/146

Chromosome

6

Position

43007265

Gene	MEA1, PPP2R5D

is a	snp
is	mentioned by
dbSNP	rs863225082
dbSNP (classic)	rs863225082
ClinGen	rs863225082
ebi	rs863225082
HLI	rs863225082
Exac	rs863225082
Gnomad	rs863225082
Varsome	rs863225082
LitVar	rs863225082
Map	rs863225082
PheGenI	rs863225082
Biobank	rs863225082
1000 genomes	rs863225082
hgdp	rs863225082
ensembl	rs863225082
geneview	rs863225082
scholar	rs863225082
google	rs863225082
pharmgkb	rs863225082
gwascentral	rs863225082
openSNP	rs863225082
23andMe	rs863225082
SNPshot	rs863225082
SNPdbe	rs863225082
MSV3d	rs863225082
GWAS Ctlg	rs863225082

Max Magnitude

8

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 26576547 ] 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,