Mutation details:

cDNA level identifier (NM_000161):

c.627-2dupA

Gene level identifier:

g.58712insA

Reference, alternative allele:

C, CT

Genomic location hg(0)

14:55310862 (not available on ExAC)

Gene name:

GCH1

Consequence:

splice site

Pathogenicity scoring:

Probably pathogenic

CADD score:

26

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

3 heterozygous (3 in total).