Mutation details:

cDNA level identifier (NM_006749):

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

Archive identifier/Other designation:

deletion of exon 2

Genomic location hg(19)

not available

Gene name:

SLC20A2

Consequence:

structural variation

Pathogenicity scoring:

Probably pathogenic

CADD score:

not available

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

3 heterozygous (3 in total).