Mutation details:

Protein level identifier (n.a.):

p.Ser349Pro

cDNA level identifier (n.a.):

c.1045T>C

Gene level identifier:

g.5220T>C

Reference, alternative allele:

A, G

Genomic location hg(0)

11:2187888 (not available on ExAC)

Gene name:

TH

Consequence:

missense

Pathogenicity scoring:

Probably pathogenic

CADD score:

not available

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

2 compound heterozygous (2 in total).