Mutation details:

Protein level identifier (n.a.):

p.Cys279Phe

cDNA level identifier (n.a.):

c.836G>T

Gene level identifier:

g.4893G>T

Reference, alternative allele:

C, A

Genomic location hg(0)

11:2188215 (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:

1 compound heterozygous (1 in total).