Mutation details:

Protein level identifier (NP_000152):

p.Met221Thr

cDNA level identifier (NM_000161):

c.662T>G

Gene level identifier:

g.58745T>C

Archive identifier/Other designation:

p.M221T

Reference, alternative allele:

A, C

Genomic location hg(0)

14:55310826 (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:

1 heterozygous (1 in total).