Mutation details:

Protein level identifier (NP_006740):

p.Val128Serfs*43

cDNA level identifier (NM_006749):

c.382del

Gene level identifier:

g.73727delG

Reference, alternative allele:

AC, A

Genomic location hg(19)

8:42323342 (not available on ExAC)

Gene name:

SLC20A2

Consequence:

frameshift

Pathogenicity scoring:

Probably pathogenic

CADD score:

not available

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 heterozygous (1 in total).