Mutation details:

cDNA level identifier (NM_000161):

c.626+3_626+6delAAGT

Gene level identifier:

g.57091delAAGT

Reference, alternative allele:

GACTT, G

Genomic location hg(0)

14:55312479 (not available on ExAC)

Gene name:

GCH1

Consequence:

splice site

Pathogenicity scoring:

Probably pathogenic

CADD score:

15

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 heterozygous (1 in total).