Mutation details:

cDNA level identifier (NM_000161):

c.(453+1_454-1)_(509+1_510-1)del

Genomic location hg(0)

not available

Gene name:

GCH1

Consequence:

structural variation

Pathogenicity scoring:

Probably pathogenic

CADD score:

not available

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

3 heterozygous (3 in total).