Mutation details:

cDNA level identifier (n.a.):

c.1198-24T>A

Gene level identifier:

g.6091T>A

Archive identifier/Other designation:

IVS12-24T>A

Reference, alternative allele:

A, T

Genomic location hg(0)

11:2187017 (not available on ExAC)

Gene name:

TH

Consequence:

unknown effect

Pathogenicity scoring:

Possibly pathogenic

CADD score:

not available

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

2 compound heterozygous (2 in total).