Mutation details:

Protein level identifier (NP_000152):

p.Gly90Val

cDNA level identifier (NM_000161):

c.269G>T

Gene level identifier:

g.458G>T

Reference, alternative allele:

C, A

Genomic location hg(0)

14:55369113 (not available on ExAC)

Gene name:

GCH1

Consequence:

missense

Pathogenicity scoring:

Probably pathogenic

CADD score:

32

Positive functional evidence:

10076897; 10984670;

Number of all included cases:

2 heterozygous (2 in total).

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