Mutation details:

Protein level identifier (NP_000152):

p.Pro147Gln

cDNA level identifier (NM_000161):

c.440C>A

Gene level identifier:

g.37513C>A

Reference, alternative allele:

G, T

Genomic location hg(0)

14:55332058 (not available on ExAC)

Gene name:

GCH1

Consequence:

missense

Pathogenicity scoring:

Possibly pathogenic

CADD score:

27

Positive functional evidence:

not available

Number of all included cases:

1 heterozygous (1 in total).