Mutation details:

Protein level identifier (NP_006740):

p.Asn194Ser

cDNA level identifier (NM_006749):

c.581A>G

Gene level identifier:

g.79624A>G

Reference, alternative allele:

T, C

Genomic location hg(19)

8:42317446

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).