Mutation details:

cDNA level identifier (n.a.):

c.84-3C>G

Gene level identifier:

g.2227C>G

Archive identifier/Other designation:

IVS2-3C>G

Reference, alternative allele:

C, G

Genomic location hg(0)

11:112099314 (not available on ExAC)

Gene name:

PTS

Consequence:

splice site

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).