Mutation details:

Protein level identifier (NP_000152):

p.His144Pro

cDNA level identifier (NM_000161):

c.431A>C

Gene level identifier:

g.37504A>C

Reference, alternative allele:

T, G

Genomic location hg(0)

14:55332067 (not available on ExAC)

Gene name:

GCH1

Consequence:

missense

Pathogenicity scoring:

Probably pathogenic

CADD score:

25

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

2 heterozygous (2 in total).