Mutation details:

cDNA level identifier (NM_000161):

c.344+5G>C

Gene level identifier:

g.537G>C

Reference, alternative allele:

C, G

Genomic location hg(0)

14:55369034 (not available on ExAC)

Gene name:

GCH1

Consequence:

unknown effect

Pathogenicity scoring:

Possibly pathogenic

CADD score:

15

Positive functional evidence:

not available

Number of all included cases:

3 heterozygous (3 in total).