Mutation details:

Protein level identifier (n.a.):

p.Arg245Met

cDNA level identifier (n.a.):

c.734G>T

Gene level identifier:

g.4009G>T

Reference, alternative allele:

C, A

Genomic location hg(0)

11:2189099 (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:

3 compound heterozygous (3 in total).