Mutation details:

cDNA level identifier:

c.(-265+1_-264+1)_(289+1_290-1)del

Archive identifier/Other designation:

deletion of exon 2

Gene name:

SLC20A2

Consequence:

structural variation

Pathogenicity scoring:

probably pathogenic

CADD score:

50

Positive functional evidence:

not available

Diseases reported for this mutation:

PFBC-SLC20A2

Number of all included cases:

3 heterozygous (3 in total).

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