Mutation details:

Protein level identifier (NP_000152):

p.Thr106Ile

cDNA level identifier (NM_000161):

c.317C>T

Gene level identifier:

g.506C>T

Reference, alternative allele:

G, A

Genomic location hg(0)

14:55369065 (not available on ExAC)

Gene name:

GCH1

Consequence:

missense

Pathogenicity scoring:

Probably pathogenic

CADD score:

31

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

3 heterozygous (3 in total).