Mutation details:

Protein level identifier (NP_000152):

p.Asn70Thrfs*10

cDNA level identifier (NM_000161):

c.209delA

Gene level identifier:

g.398delA

Reference, alternative allele:

GT, G

Genomic location hg(0)

14:55369172 (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:

3 heterozygous (3 in total).