Mutation details:

Protein level identifier (NP_000152):

p.Arg216*

cDNA level identifier (NM_000161):

c.646C>T

Gene level identifier:

g.58729C>T

Reference, alternative allele:

G, A

Genomic location hg(0)

14:55310842 (not available on ExAC)

Gene name:

GCH1

Consequence:

nonsense

Pathogenicity scoring:

Probably pathogenic

CADD score:

46

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

5 heterozygous (5 in total).