Mutation details:

cDNA level identifier (NM_000161):

c.-189-44_-189-62delTGACGCGAGGCGGGGCCG

Reference, alternative allele:

CCGGCCCCGCCTCGCGTCA, C

Genomic location hg(0)

14:5536993 (not available on ExAC)

Gene name:

GCH1

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).