Mutation details:

Protein level identifier (n.a.):

p.Val132Tyrfs*19

cDNA level identifier (n.a.):

c.393delA

Gene level identifier:

g.7146delA

Reference, alternative allele:

AA, A

Genomic location hg(0)

11:112104232 (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).