Mutation details:

Protein level identifier (NP_000152):

p.Met230Ilefs*19

cDNA level identifier (NM_000161):

c.689_690delTG

Gene level identifier:

g.58772_58773delTG

Reference, alternative allele:

ACA, A

Genomic location hg(0)

14:55310797 (not available on ExAC)

Gene name:

GCH1

Consequence:

unknown effect

Pathogenicity scoring:

Probably pathogenic

CADD score:

35

Positive functional evidence:

not available

Number of all included cases:

1 heterozygous (1 in total).