Mutation details:

Protein level identifier (NP_000152):

p.Lys224Glu

cDNA level identifier (NM_000161):

c.670A>G

Gene level identifier:

g.58753A>G

Reference, alternative allele:

T, C

Genomic location hg(0)

14:55310818 (not available on ExAC)

Gene name:

GCH1

Consequence:

missense

Pathogenicity scoring:

Probably pathogenic

CADD score:

23

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

2 heterozygous (2 in total).