Mutation details:

Protein level identifier (NP_006740):

p.Gly120Arg

cDNA level identifier (NM_006749):

c.358G>C

Gene level identifier:

g.73703G>C

Reference, alternative allele:

C, G

Genomic location hg(19)

8:42323367 (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).