Mutation details:

cDNA level identifier (n.a.):

c.187-37insG

Gene level identifier:

g.4225insG

Archive identifier/Other designation:

IVS4-37insG

Reference, alternative allele:

C, CG

Genomic location hg(0)

11:112101312 (not available on ExAC)

Gene name:

PTS

Consequence:

unknown effect

Pathogenicity scoring:

Possibly pathogenic

CADD score:

not available

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 homozygous (1 in total).