Mutation details:

Protein level identifier (NP_006740):

p.Val205Glyfs*65

cDNA level identifier (NM_006749):

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

Archive identifier/Other designation:

deletion of exons 6-10

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:

2 heterozygous (2 in total).