Mutation details:

Protein level identifier (NP_006740):

p.Ser113*

cDNA level identifier (NM_006749):

c.338C>G

Gene level identifier:

g.73683C>G

Archive identifier/Other designation:

p.S113*

Reference, alternative allele:

G, C

Genomic location hg(19)

8:42323387 (not available on ExAC)

Gene name:

SLC20A2

Consequence:

nonsense

Pathogenicity scoring:

Probably pathogenic

CADD score:

not available

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

2 heterozygous (2 in total).