Mutation details:

Protein level identifier (NP_000152):

p.Glu61*

cDNA level identifier (NM_000161):

c.181G>T

Gene level identifier:

g.370G>T

Reference, alternative allele:

C, A

Genomic location hg(0)

14:55369201 (not available on ExAC)

Gene name:

GCH1

Consequence:

nonsense

Pathogenicity scoring:

Definitely pathogenic

CADD score:

36

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

7 heterozygous (7 in total).