Mutation details:

Protein level identifier (NP_006740):

p.Leu50*

cDNA level identifier (NM_006749):

c.149T>G

Gene level identifier:

g.67310T>G

Reference, alternative allele:

A, C

Genomic location hg(19)

8:42329760 (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:

1 heterozygous (1 in total).