Mutation details:

cDNA level identifier (NM_000161):

c.(541+1_542-1)_(*2000_?)del

Genomic location hg(0)

not available

Gene name:

GCH1

Consequence:

structural variation

Pathogenicity scoring:

Probably pathogenic

CADD score:

not available

Positive functional evidence:

not available

Number of all included cases:

4 heterozygous (4 in total).