Mutation details:

Protein level identifier (NP_001035):

p.Gly327Arg

cDNA level identifier (NM_001044):

c.979G>A

Gene level identifier:

g.29281G>A

Archive identifier/Other designation:

p.G327R

Reference, alternative allele:

C, T

Genomic location hg(19)

5:1416265

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).