Mutation details:

Protein level identifier (n.a.):

p.Ser15_Arg16insGly

cDNA level identifier (n.a.):

c.45_46insGGC

Gene level identifier:

g.124_125GGC

Reference, alternative allele:

C, CGGC

Genomic location hg(0)

11:112097210 (not available on ExAC)

Gene name:

PTS

Consequence:

unknown effect

Pathogenicity scoring:

Probably pathogenic

CADD score:

not available

Positive functional evidence:

not available

Number of all included cases:

1 compound heterozygous (1 in total).