Mutation details:

cDNA level identifier (NM_001044):

c.418+3800_653+3058del

Gene level identifier:

g.7872_16025del

Archive identifier/Other designation:

deletion of exon 4

Reference, alternative allele:

A+8153, A

Genomic location hg(19)

5:1429405 (not available on ExAC)

Gene name:

SLC6A3

Consequence:

structural variation

Pathogenicity scoring:

Probably pathogenic

CADD score:

not available

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 homozygous (1 in total).