Mutation details:

cDNA level identifier:

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

Archive identifier/Other designation:

microdeletion, null allele

Gene name:

SLC2A1

Consequence:

structural variation

Pathogenicity scoring:

possibly pathogenic

CADD score:

50

Positive functional evidence:

not available

Diseases reported for this mutation:

PxMD-SLC2A1

Number of all included cases:

1 heterozygous (1 in total).

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