Mutation details:

Protein level identifier (NP_000152):

p.Gln182*

cDNA level identifier (NM_000161):

c.544C>T

Gene level identifier:

g.57003C>T

Reference, alternative allele:

G, A

Genomic location hg(0)

14:55312568 (not available on ExAC)

Gene name:

GCH1

Consequence:

nonsense

Pathogenicity scoring:

Definitely pathogenic

CADD score:

39

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

10 heterozygous (10 in total).