Mutation details:

cDNA level identifier (NM_000161):

c.509+5G>A

Gene level identifier:

g.43177G>A

Reference, alternative allele:

C, T

Genomic location hg(0)

14:55326394 (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:

1 heterozygous (1 in total).