Mutation details:

Protein level identifier (NP_000152):

p.Ala74Asp

cDNA level identifier (NM_000161):

c.221C>A

Gene level identifier:

g.410C>A

Reference, alternative allele:

G, T

Genomic location hg(0)

14:55369161 (not available on ExAC)

Gene name:

GCH1

Consequence:

missense

Pathogenicity scoring:

Probably pathogenic

CADD score:

26

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

2 heterozygous (2 in total).