Mutation details:

Protein level identifier (NP_000152):

p.Met137Arg

cDNA level identifier (NM_000161):

c.410T>G

Gene level identifier:

g.37483T>G

Reference, alternative allele:

A, C

Genomic location hg(0)

14:55332088 (not available on ExAC)

Gene name:

GCH1

Consequence:

missense

Pathogenicity scoring:

Probably pathogenic

CADD score:

27

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

5 heterozygous (5 in total).