Mutation details:

Protein level identifier (NP_000152):

p.Ile193Asn

cDNA level identifier (NM_000161):

c.578T>A

Gene level identifier:

g.57037T>A

Reference, alternative allele:

A, T

Genomic location hg(0)

14:55312534 (not available on ExAC)

Gene name:

GCH1

Consequence:

missense

Pathogenicity scoring:

Probably pathogenic

CADD score:

27

Positive functional evidence:

not available

Number of all included cases:

1 heterozygous (1 in total).