Mutation details:

Protein level identifier (NP_000152):

p.Ile113Met

cDNA level identifier (NM_000161):

c.339C>G

Gene level identifier:

g.528C>G

Reference, alternative allele:

G, C

Genomic location hg(0)

14:55369043 (not available on ExAC)

Gene name:

GCH1

Consequence:

missense

Pathogenicity scoring:

Probably pathogenic

CADD score:

24

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 compound heterozygous (1 in total).