Mutation details:

Protein level identifier (NP_000152):

p.Lys224*

cDNA level identifier (NM_000161):

c.670A>T

Gene level identifier:

g.58753A>T

Reference, alternative allele:

T, A

Genomic location hg(0)

14:55310818 (not available on ExAC)

Gene name:

GCH1

Consequence:

nonsense

Pathogenicity scoring:

Probably pathogenic

CADD score:

41

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 heterozygous (1 in total).