Mutation details:

Protein level identifier (NP_006740):

p.His362Glnfs*93

cDNA level identifier (NM_006749):

c.1086delC

Gene level identifier:

g.102126delC

Archive identifier/Other designation:

p.His362Glnfs*54

Reference, alternative allele:

TG, T

Genomic location hg(19)

8:42294943 (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:

5 heterozygous (5 in total).