Mutation details:

Protein level identifier (NP_000152):

p.Met230Ile

cDNA level identifier (NM_000161):

c.690G>A

Gene level identifier:

g.58773G>A

Reference, alternative allele:

C, T

Genomic location hg(0)

14:55310798 (not available on ExAC)

Gene name:

GCH1

Consequence:

missense

Pathogenicity scoring:

Possibly pathogenic

CADD score:

26

Positive functional evidence:

not available

Number of all included cases:

1 heterozygous (1 in total).