Mutation details:

Protein level identifier (NP_001124162):

p.Ala116Pro

cDNA level identifier (NM_001130690):

c.346G>C

Gene level identifier:

g.211859G>C

Archive identifier/Other designation:

p.A116P

Reference, alternative allele:

C, G

Genomic location hg(19)

6:165863730 (not available on ExAC)

Gene name:

PDE10A

Consequence:

missense

Pathogenicity scoring:

Probably pathogenic

CADD score:

34

Phosphorylation activity:

Positive functional evidence:

1;

Number of all included cases:

2 homozygous (2 in total).

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