Mutation details:

Protein level identifier (NP_001035):

p.Leu224Pro

cDNA level identifier (NM_001044):

c.671T>C

Gene level identifier:

g.23434T>C

Archive identifier/Other designation:

p.L224P

Reference, alternative allele:

A, G

Genomic location hg(19)

5:1422112 (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 homozygous (1 in total).