Mutation details:

Protein level identifier (NP_000152):

p.Leu179del

cDNA level identifier (NM_000161):

c.536_538delTAC

Gene level identifier:

g.55749_55751delTAC

Reference, alternative allele:

TGTA, T

Genomic location hg(0)

14:55313819 (not available on ExAC)

Gene name:

GCH1

Consequence:

unknown effect

Pathogenicity scoring:

Possibly pathogenic

CADD score:

22

Positive functional evidence:

not available

Number of all included cases:

1 heterozygous (1 in total).