Mutation details:

Protein level identifier (NP_000152):

p.Thr186Lys

cDNA level identifier (NM_000161):

c.557C>A

Gene level identifier:

g.57016C>T

Reference, alternative allele:

G, A

Genomic location hg(0)

14:55312555 (not available on ExAC)

Gene name:

GCH1

Consequence:

missense

Pathogenicity scoring:

Probably pathogenic

CADD score:

25

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

3 heterozygous (3 in total).