Mutation details:

Protein level identifier (NP_001035):

p.Pro395Leu

cDNA level identifier (NM_001044):

c.1184C>T

Gene level identifier:

g.34103C>T

Archive identifier/Other designation:

p.P395L

Reference, alternative allele:

G, A

Genomic location hg(19)

5:1411443

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 homozygous (1 in total).