Mutation details:

Protein level identifier (NP_000152):

p.Ser77_Leu82del

cDNA level identifier (NM_000161):

c.229_246delCCATCCTGAGCTCGCTG

Gene level identifier:

g.418_435delCCATCCTGAGCTCGCTG

Reference, alternative allele:

CCAGCGAGCTCAGGATGGA, C

Genomic location hg(0)

14:55369135 (not available on ExAC)

Gene name:

GCH1

Consequence:

unknown effect

Pathogenicity scoring:

Possibly pathogenic

CADD score:

18

Positive functional evidence:

not available

Number of all included cases:

9 heterozygous (9 in total).