Mutation details:

Protein level identifier (NP_000152):

p.Ile135Lys

cDNA level identifier (NM_000161):

c.404T>A

Gene level identifier:

g.37477T>A

Reference, alternative allele:

A, T

Genomic location hg(0)

14:55332094 (not available on ExAC)

Gene name:

GCH1

Consequence:

missense

Pathogenicity scoring:

Probably pathogenic

CADD score:

28

Positive functional evidence:

not available

Number of all included cases:

3 heterozygous (3 in total).