Mutation details:

Protein level identifier (NP_000152):

p.Glu84*

cDNA level identifier (NM_000161):

c.250G>T

Gene level identifier:

g.439G>T

Reference, alternative allele:

C, A

Genomic location hg(0)

14:55369132 (not available on ExAC)

Gene name:

GCH1

Consequence:

nonsense

Pathogenicity scoring:

Probably pathogenic

CADD score:

35

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

2 heterozygous (2 in total).