Mutation details:

cDNA level identifier (NM_000161):

c.454-2A>G

Gene level identifier:

g.43115A>G

Reference, alternative allele:

T, C

Genomic location hg(0)

14:55326456 (not available on ExAC)

Gene name:

GCH1

Consequence:

splice site

Pathogenicity scoring:

Definitely pathogenic

CADD score:

25

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

8 heterozygous (8 in total).