Mutation details:

Protein level identifier (NP_006740):

p.Ser121Cys

cDNA level identifier (NM_006749):

c.362C>G

Gene level identifier:

g.73707C>G

Archive identifier/Other designation:

p.S121C

Reference, alternative allele:

G, C

Genomic location hg(19)

8:42323363 (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 compound heterozygous (1 in total).