Mutation details:

Protein level identifier (NP_000152):

p.Leu79_Ser80del

cDNA level identifier (NM_000161):

c.235_240delCTGAGC

Gene level identifier:

g.424_429delCTGAGC

Reference, alternative allele:

AGCTCAG, A

Genomic location hg(0)

14:55369141 (not available on ExAC)

Gene name:

GCH1

Consequence:

unknown effect

Pathogenicity scoring:

Probably pathogenic

CADD score:

18

Phosphorylation activity:

Positive functional evidence:

22633640; 28395739;

Number of all included cases:

1 heterozygous (1 in total).