Mutation details:

Protein level identifier (NP_000152):

p.Val204_Val205del

cDNA level identifier (NM_000161):

c.612_617delAGTGGT

Gene level identifier:

g.57071_57076delAGTGGT

Reference, alternative allele:

AACCACT, A

Genomic location hg(0)

14:55312494 (not available on ExAC)

Gene name:

GCH1

Consequence:

unknown effect

Pathogenicity scoring:

Probably pathogenic

CADD score:

20

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

2 heterozygous (2 in total).