Mutation details:

Protein level identifier (NP_000152):

p.Ser114*

cDNA level identifier (NM_000161):

c.341C>G

Gene level identifier:

g.530C>G

Reference, alternative allele:

G, C

Genomic location hg(0)

14:55369041 (not available on ExAC)

Gene name:

GCH1

Consequence:

nonsense

Pathogenicity scoring:

Definitely pathogenic

CADD score:

37

Phosphorylation activity:

Positive functional evidence:

8619546; 9629849;

Number of all included cases:

5 heterozygous (5 in total).