Mutation details:

Protein level identifier (NP_001124162):

p.Tyr107Cys

cDNA level identifier (NM_001130690):

c.320A>G

Gene level identifier:

g.211833A>G

Archive identifier/Other designation:

p.Y107C

Reference, alternative allele:

T, C

Genomic location hg(19)

6:165863756

Gene name:

PDE10A

Consequence:

missense

Pathogenicity scoring:

Probably pathogenic

CADD score:

26

Phosphorylation activity:

Positive functional evidence:

1;

Number of all included cases:

4 homozygous (4 in total).

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