Mutation details:

Protein level identifier (NP_000152):

p.Phe105dup

cDNA level identifier (NM_000161):

c.313_315dupTTC

Gene level identifier:

g.502_505dupTTC

Reference, alternative allele:

T, TGAA

Genomic location hg(0)

14:55369066 (not available on ExAC)

Gene name:

GCH1

Consequence:

unknown effect

Pathogenicity scoring:

Possibly pathogenic

CADD score:

34

Positive functional evidence:

not available

Number of all included cases:

1 heterozygous (1 in total).