Mutation details:

Protein level identifier (NP_000152):

p.Lys107Argfs*8

cDNA level identifier (NM_000161):

c.320_329delAGGGCTACCA

Gene level identifier:

g.509_518delAGGGCTACCA

Reference, alternative allele:

CTGGTAGCCCT, C

Genomic location hg(0)

14:55369052 (not available on ExAC)

Gene name:

GCH1

Consequence:

unknown effect

Pathogenicity scoring:

Possibly pathogenic

CADD score:

35

Positive functional evidence:

not available

Number of all included cases:

1 heterozygous (1 in total).