Mutation details:

cDNA level identifier (n.a.):

c.-2188_103-194del

Gene level identifier:

g.(1-2097)_914del

Archive identifier/Other designation:

deletion of promotor-exon 1

Reference, alternative allele:

C+3011bp, C

Genomic location hg(0)

11:2192193 (not available on ExAC)

Gene name:

TH

Consequence:

structural variation

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).