Mutation details:

cDNA level identifier (NM_001044):

c.1269+1G>T

Gene level identifier:

g.34189G>T

Reference, alternative allele:

C, A

Genomic location hg(19)

5:1411357 (not available on ExAC)

Gene name:

SLC6A3

Consequence:

splice site

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).