Mutation details:

Protein level identifier (n.a.):

p.Gly247Ser

cDNA level identifier (n.a.):

c.739G>A

Gene level identifier:

g.4394G>A

Reference, alternative allele:

C, T

Genomic location hg(0)

11:2188714 (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:

4 compound heterozygous (4 in total).