Mutation details:

Protein level identifier (NP_000152):

p.Thr227Ala

cDNA level identifier (NM_000161):

c.679A>G

Gene level identifier:

g.58762A>G

Reference, alternative allele:

T, C

Genomic location hg(0)

14:55310809 (not available on ExAC)

Gene name:

GCH1

Consequence:

missense

Pathogenicity scoring:

Possibly pathogenic

CADD score:

28

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 heterozygous (1 in total).