Mutation details:

Protein level identifier (NP_000152):

p.Arg57Gln

cDNA level identifier (NM_000161):

c.170G>A

Gene level identifier:

g.359G>A

Reference, alternative allele:

C, T

Genomic location hg(0)

14:55369212 (not available on ExAC)

Gene name:

GCH1

Consequence:

missense

Pathogenicity scoring:

Possibly pathogenic

CADD score:

18

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 heterozygous (1 in total).