Mutation details:

cDNA level identifier (NM_000161):

c.626+2T>G

Gene level identifier:

g.57087T>G

Archive identifier/Other designation:

IVS5+2T>G

Reference, alternative allele:

A, C

Genomic location hg(0)

14:55312484 (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:

2 heterozygous (2 in total).