Mutation details:

Protein level identifier:

p.Val205Glyfs*65

cDNA level identifier:

c.(613+1_614-1)_(1794+1_1795-1)del

Archive identifier/Other designation:

deletion of exons 6-10

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:

2 heterozygous (2 in total).

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