Mutation details:

cDNA level identifier (NM_000161):

c.344-2A>G

Gene level identifier:

g.37415A>G

Reference, alternative allele:

T, C

Genomic location hg(0)

14:55332156 (not available on ExAC)

Gene name:

GCH1

Consequence:

splice site

Pathogenicity scoring:

Probably pathogenic

CADD score:

23

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

4 heterozygous (4 in total).