Mutation details:

cDNA level identifier (NM_000161):

c.626+2dupT

Gene level identifier:

g.57087dupT

Reference, alternative allele:

T, TA

Genomic location hg(0)

14:55312483 (not available on ExAC)

Gene name:

GCH1

Consequence:

splice site

Pathogenicity scoring:

Probably pathogenic

CADD score:

13

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

6 heterozygous (6 in total).