Mutation details:

Protein level identifier (NP_000152):

p.Glu207Cysfs*5

cDNA level identifier (NM_000161):

c.618_626+6del

Gene level identifier:

g.57077_57092del

Reference, alternative allele:

GTCTTACGTTGCTTCA, G

Genomic location hg(0)

14:55312479 (not available on ExAC)

Gene name:

GCH1

Consequence:

unknown effect

Pathogenicity scoring:

Probably pathogenic

CADD score:

32

Positive functional evidence:

not available

Number of all included cases:

1 heterozygous (1 in total).