Mutation details:

Protein level identifier (NP_006507):

p.Gln282_Ser285del

cDNA level identifier (NM_006516):

c.843_854delCCAGCAGCTGTC

Gene level identifier:

g.29243_29254delCCAGCAGCTGTC

Archive identifier/Other designation:

c.1022_1033del

Reference, alternative allele:

AGACAGCTGCTGG, A

Genomic location hg(19)

1:43395276 (not available on ExAC)

Gene name:

SLC2A1

Consequence:

structural variation

Pathogenicity scoring:

Probably pathogenic

CADD score:

23

Phosphorylation activity:

Positive functional evidence:

18451999;

Number of all included cases:

3 heterozygous (3 in total).