Mutation details:

Protein level identifier (NP_000152):

p.Gln89HisGly90_Pro95del

cDNA level identifier (NM_000161):

c.267_284delAGGGCTGCTCAAGACGCC

Gene level identifier:

g.456_473delAGGGCTGCTCAAGACGCC

Reference, alternative allele:

GGGCGTCTTGAGCAGCCCT, G

Genomic location hg(0)

14:55369097 (not available on ExAC)

Gene name:

GCH1

Consequence:

unknown effect

Pathogenicity scoring:

Possibly pathogenic

CADD score:

23

Positive functional evidence:

not available

Number of all included cases:

1 heterozygous (1 in total).