Mutation details:

Protein level identifier (n.a.):

p.Leu99Argfs*15

cDNA level identifier (n.a.):

c.296delT

Gene level identifier:

g.2119delT

Reference, alternative allele:

CA, C

Genomic location hg(0)

11:2190988 (not available on ExAC)

Gene name:

TH

Consequence:

unknown effect

Pathogenicity scoring:

Probably pathogenic

CADD score:

not available

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

2 compound heterozygous (2 in total).