Mutation details:

Protein level identifier (NP_000152):

p.Glu65Serfs*2

cDNA level identifier (NM_000161):

c.193delG

Gene level identifier:

g.382delG

Reference, alternative allele:

TC, T

Genomic location hg(0)

14:55369188 (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).