Mutation details:

cDNA level identifier (NM_001044):

c.287-5_287-2delCACAinsAAC

Gene level identifier:

g.3936_3939delCACAinsAAC

Reference, alternative allele:

CTGTG, CGTT

Genomic location hg(19)

5:1441606 (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:

1 compound heterozygous (1 in total).