Mutation details:

cDNA level identifier (NM_006516):

c.(?_-179)_(*1660_?)del

Archive identifier/Other designation:

microdeletion, null allele

Genomic location hg(19)

not available

Gene name:

SLC2A1

Consequence:

structural variation

Pathogenicity scoring:

Possibly pathogenic

CADD score:

not available

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 heterozygous (1 in total).