Mutation details:

Protein level identifier (NP_001035):

p.Arg521Trp

cDNA level identifier (NM_001044):

c.1561C>T

Gene level identifier:

g.39205C>T

Archive identifier/Other designation:

p.R521W

Reference, alternative allele:

G, A

Genomic location hg(19)

5:1406341

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).