Mutation details:

Protein level identifier (n.a.):

p.Arg129*

cDNA level identifier (n.a.):

c.385C>T

Gene level identifier:

g.2208C>T

Reference, alternative allele:

G, A

Genomic location hg(0)

11:2190900 (not available on ExAC)

Gene name:

TH

Consequence:

nonsense

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).