Mutation details:

Protein level identifier (NP_006740):

p.Gly90Val

cDNA level identifier (NM_006749):

c.269G>T

Gene level identifier:

g.67430G>T

Archive identifier/Other designation:

p.Gly90Val

Reference, alternative allele:

C, A

Genomic location hg(19)

8:42329640 (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:

1 heterozygous (1 in total).