Mutation details:

Protein level identifier (NP_006740):

p.Leu62Pro

cDNA level identifier (NM_006749):

c.185T>C

Gene level identifier:

g.67346T>C

Archive identifier/Other designation:

p.L62P

Reference, alternative allele:

A, G

Genomic location hg(19)

8:42329724 (not available on ExAC)

Gene name:

SLC20A2

Consequence:

missense

Pathogenicity scoring:

Probably pathogenic

CADD score:

not available

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

4 heterozygous (4 in total).