Mutation details:

Protein level identifier (NP_000152):

p.Gly203Glu

cDNA level identifier (NM_000161):

c.608G>A

Gene level identifier:

g.57067G>A

Reference, alternative allele:

C, T

Genomic location hg(0)

14:55312504 (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:

5 heterozygous (5 in total).