Mutation details:

Protein level identifier (NP_001035):

p.His547Phefs*56

cDNA level identifier (NM_001044):

c.1639dupC

Gene level identifier:

g.42381dupC

Reference, alternative allele:

T, TG

Genomic location hg(19)

5:1403164 (not available on ExAC)

Gene name:

SLC6A3

Consequence:

frameshift

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).