Mutation details:

Protein level identifier (NP_006740):

p.Arg71His

cDNA level identifier (NM_006749):

c.212G>A

Gene level identifier:

g.67373G>A

Archive identifier/Other designation:

p.R71H

Reference, alternative allele:

C, T

Genomic location hg(19)

8:42329697 (not available on ExAC)

Gene name:

SLC20A2

Consequence:

missense

Pathogenicity scoring:

Possibly pathogenic

CADD score:

not available

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 heterozygous (1 in total).