Mutation details:

Protein level identifier (NP_000152):

p.Ala190Leufs*2

cDNA level identifier (NM_000161):

c.568delG

Gene level identifier:

g.57027delG

Reference, alternative allele:

GC, G

Genomic location hg(0)

14:55312543 (not available on ExAC)

Gene name:

GCH1

Consequence:

unknown effect

Pathogenicity scoring:

Probably pathogenic

CADD score:

34

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

4 heterozygous (4 in total).