Mutation details:

Protein level identifier (NP_001035):

p.Ile312Phe

cDNA level identifier (NM_001044):

c.934A>T

Gene level identifier:

g.29236A>T

Reference, alternative allele:

T, A

Genomic location hg(19)

5:1416310 (not available on ExAC)

Gene name:

SLC6A3

Consequence:

missense

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).