Mutation details:

Protein level identifier (NP_000152):

p.Ter251Argext*36

cDNA level identifier (NM_000161):

c.751T>C

Gene level identifier:

g.58834T>C

Reference, alternative allele:

A, G

Genomic location hg(0)

14:55310737 (not available on ExAC)

Gene name:

GCH1

Consequence:

unknown effect

Pathogenicity scoring:

Possibly pathogenic

CADD score:

15

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

19 heterozygous (19 in total).