rs863225079
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;G) | 8 | Neurodevelopmental disorder-associated mutation |
(G;G) | 0 | common in clinvar |
Make rs863225079(A;A) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 6 |
Position | 43007271 |
Gene | MEA1, PPP2R5D |
is a | snp |
is | mentioned by |
dbSNP | rs863225079 |
dbSNP (classic) | rs863225079 |
ClinGen | rs863225079 |
ebi | rs863225079 |
HLI | rs863225079 |
Exac | rs863225079 |
Gnomad | rs863225079 |
Varsome | rs863225079 |
LitVar | rs863225079 |
Map | rs863225079 |
PheGenI | rs863225079 |
Biobank | rs863225079 |
1000 genomes | rs863225079 |
hgdp | rs863225079 |
ensembl | rs863225079 |
geneview | rs863225079 |
scholar | rs863225079 |
rs863225079 | |
pharmgkb | rs863225079 |
gwascentral | rs863225079 |
openSNP | rs863225079 |
23andMe | rs863225079 |
SNPshot | rs863225079 |
SNPdbe | rs863225079 |
MSV3d | rs863225079 |
GWAS Ctlg | rs863225079 |
Max Magnitude | 8 |
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 26576547] 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, |