Mutation details:

Protein level identifier (NP_000152):

p.Gln48*

cDNA level identifier (NM_000161):

c.142C>T

Gene level identifier:

g.331C>T

Reference, alternative allele:

G, A

Genomic location hg(0)

14:55369240 (not available on ExAC)

Gene name:

GCH1

Consequence:

nonsense

Pathogenicity scoring:

Definitely pathogenic

CADD score:

36

Positive functional evidence:

not available

Number of all included cases:

6 heterozygous (6 in total).