Mutation details:

Protein level identifier (NP_000152):

p.Arg88Leu

cDNA level identifier (NM_000161):

c.263G > T

Gene level identifier:

g.452G>T

Reference, alternative allele:

C, A

Genomic location hg(0)

14:55369119 (not available on ExAC)

Gene name:

GCH1

Consequence:

missense

Pathogenicity scoring:

Probably pathogenic

CADD score:

33

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

2 heterozygous (2 in total).