Mutation details:

cDNA level identifier (n.a.):

c.1197+5G>C

Gene level identifier:

g.5881G>C

Archive identifier/Other designation:

IVS11+5G>C

Reference, alternative allele:

C, G

Genomic location hg(0)

11:2187227 (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:

1 compound heterozygous (1 in total).