Mutation details:

cDNA level identifier (NM_000161):

-22C>T

Gene level identifier:

g.168C>T

Reference, alternative allele:

G, A

Genomic location hg(0)

14:55369403 (not available on ExAC)

Gene name:

GCH1

Consequence:

unknown effect

Pathogenicity scoring:

Possibly pathogenic

CADD score:

1

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

7 heterozygous (7 in total).