Mutation details:

cDNA level identifier (n.a.):

c.1197+25_1397del

Gene level identifier:

g.5901_6616del

Archive identifier/Other designation:

deletion of exon 12 and part of exon 13

Reference, alternative allele:

C+716bp, C

Genomic location hg(0)

11:2186491 (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:

1 compound heterozygous (1 in total).