Mutation details:

Protein level identifier (NP_006740):

p.Trp626_Thr629dup

cDNA level identifier (NM_006749):

c.1876_1887dupTGGTTCGTGACC

Gene level identifier:

g.121666_121677dupTGGTTCGTGACC

Archive identifier/Other designation:

p.Trp626_Thr629dup

Reference, alternative allele:

C, CGGTCACGAACCA

Genomic location hg(19)

8:42275392 (not available on ExAC)

Gene name:

SLC20A2

Consequence:

in frame indel

Pathogenicity scoring:

Possibly pathogenic

CADD score:

not available

Phosphorylation activity:

Positive functional evidence:

28722801;

Number of all included cases:

1 heterozygous (1 in total).