Mutation details:

Protein level identifier (NP_000152):

p.Gln48Alafs*16

cDNA level identifier (NM_000161):

c.141_142delGC

Gene level identifier:

g.330_331delGC

Reference, alternative allele:

TGC, T

Genomic location hg(0)

14:55369239 (not available on ExAC)

Gene name:

GCH1

Consequence:

unknown effect

Pathogenicity scoring:

Definitely pathogenic

CADD score:

24

Positive functional evidence:

not available

Number of all included cases:

1 heterozygous (1 in total).