Mutation details:

Protein level identifier (NP_001035):

p.Gly500Glufs*13

cDNA level identifier (NM_001044):

c.(1498+1_1499-1)_(1767+1_1768-1)del

Archive identifier/Other designation:

deletion of exons 12-13

Genomic location hg(19)

not available

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).