Mutation details:

cDNA level identifier (NM_000161):

c.453+6G>T

Gene level identifier:

g.37532G>T

Reference, alternative allele:

C, A

Genomic location hg(0)

14:55332037 (not available on ExAC)

Gene name:

GCH1

Consequence:

unknown effect

Pathogenicity scoring:

Possibly pathogenic

CADD score:

not available

Positive functional evidence:

not available

Number of all included cases:

1 compound heterozygous (1 in total).