Mutation details:

Protein level identifier (NP_000152):

p.Cys18*

cDNA level identifier (NM_000161):

c.54C>A

Gene level identifier:

g.243C>A

Reference, alternative allele:

G, T

Genomic location hg(0)

14:55369328 (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:

1 heterozygous (1 in total).