Mutation details:

Protein level identifier (NP_000152):

p.Ile78Thrfs*2

cDNA level identifier (NM_000161):

c.233delT

Gene level identifier:

g.422delT

Reference, alternative allele:

GA, G

Genomic location hg(0)

14:55369148 (not available on ExAC)

Gene name:

GCH1

Consequence:

unknown effect

Pathogenicity scoring:

Probably pathogenic

CADD score:

27

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

3 heterozygous (3 in total).