Mutation details:

Protein level identifier (NP_000152):

p.Met1Ile

cDNA level identifier (NM_000161):

c.3G>C

Gene level identifier:

g.192G>C

Reference, alternative allele:

C, G

Genomic location hg(0)

14:55369379 (not available on ExAC)

Gene name:

GCH1

Consequence:

unknown effect

Pathogenicity scoring:

Probably pathogenic

CADD score:

23

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 heterozygous (1 in total).