Mutation details:

Protein level identifier (NP_001035):

p.Leu368Gln

cDNA level identifier (NM_001044):

c.1103T>A

Gene level identifier:

g.30687T>A

Archive identifier/Other designation:

p.L368Q

Reference, alternative allele:

A, T

Genomic location hg(19)

5:1414859 (not available on ExAC)

Gene name:

SLC6A3

Consequence:

missense

Pathogenicity scoring:

Probably pathogenic

CADD score:

not available

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

2 homozygous (2 in total).