Mutation details:

Protein level identifier (n.a.):

p.Arg328Trp

cDNA level identifier (n.a.):

c.982C>T

Gene level identifier:

g.5157C>T

Reference, alternative allele:

G, A

Genomic location hg(0)

11:2187951 (not available on ExAC)

Gene name:

TH

Consequence:

missense

Pathogenicity scoring:

Definitely pathogenic

CADD score:

not available

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 compound heterozygous (1 in total).