Mutation details:

Protein level identifier (n.a.):

p.Leu236Pro

cDNA level identifier (n.a.):

c.707T>C

Gene level identifier:

g.3982T>C

Reference, alternative allele:

A, G

Genomic location hg(0)

11:2189126 (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:

8 homozygous (8 in total).