Mutation details:

Protein level identifier (NP_000152):

p.His210Thrfs*5

cDNA level identifier (NM_000161):

c.628delC

Gene level identifier:

g.58711delC

Reference, alternative allele:

TG, T

Genomic location hg(0)

14:55310859 (not available on ExAC)

Gene name:

GCH1

Consequence:

unknown effect

Pathogenicity scoring:

Probably pathogenic

CADD score:

35

Positive functional evidence:

not available

Number of all included cases:

4 heterozygous (4 in total).