Mutation details:

Protein level identifier (NP_000152):

p.Glu243Phefs*5

cDNA level identifier (NM_000161):

c.726_727insTTCCC

Gene level identifier:

g.58809_58810insTTCCC

Reference, alternative allele:

C, CGGGAA

Genomic location hg(0)

14:55310761 (not available on ExAC)

Gene name:

GCH1

Consequence:

unknown effect

Pathogenicity scoring:

Definitely pathogenic

CADD score:

35

Positive functional evidence:

not available

Number of all included cases:

15 heterozygous (15 in total).