Mutation details:

Protein level identifier (NP_006740):

p.Val144Glyfs*85

cDNA level identifier (NM_006749):

c.(430+1_431-1)_(516+1_517-1)del

Archive identifier/Other designation:

deletion of exon 4

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).