Mutation details:

cDNA level identifier (NM_000161):

c.509+2T>C

Gene level identifier:

g.43174T>C

Reference, alternative allele:

A, G

Genomic location hg(0)

14:55326397 (not available on ExAC)

Gene name:

GCH1

Consequence:

splice site

Pathogenicity scoring:

Probably pathogenic

CADD score:

24

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 heterozygous (1 in total).