Mutation details:

cDNA level identifier (NM_000161):

c.509+1G>A

Gene level identifier:

g.43173G>A

Reference, alternative allele:

C, T

Genomic location hg(0)

14:55326398 (not available on ExAC)

Gene name:

GCH1

Consequence:

splice site

Pathogenicity scoring:

Probably pathogenic

CADD score:

27

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

3 heterozygous (3 in total).