Mutation details:

Protein level identifier (n.a.):

p.Ser28Lysfs*2

cDNA level identifier (n.a.):

c.82_83insA

Gene level identifier:

161_162insA

Reference, alternative allele:

A, AA

Genomic location hg(0)

11:112097248 (not available on ExAC)

Gene name:

PTS

Consequence:

unknown effect

Pathogenicity scoring:

Probably pathogenic

CADD score:

not available

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 compound heterozygous (1 in total).