Mutation details:

cDNA level identifier (n.a.):

c.737+8_737+9delGCinsTT

Gene level identifier:

g.2020_2021delGCinsTT

Reference, alternative allele:

GGC, GAA

Genomic location hg(0)

11:2189086 (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).