Mutation details:

Protein level identifier (NP_001035):

p.Tyr470Ser

cDNA level identifier (NM_001044):

c.1408_1409delTAinsAG

Gene level identifier:

g.36315_36316delTAinsAG

Reference, alternative allele:

GTA, GCT

Genomic location hg(19)

5:1409229 (not available on ExAC)

Gene name:

SLC6A3

Consequence:

in frame indel

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).