Mutation details:

cDNA level identifier (NM_000161):

c.(343+1_344-1)_(453+1_454-1)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:

1 heterozygous (1 in total).