Mutation details:

Protein level identifier (NP_006740):

p.Lys172*

cDNA level identifier (NM_006749):

c.514A>T

Gene level identifier:

g.76545A>T

Archive identifier/Other designation:

p.K172*

Reference, alternative allele:

T, A

Genomic location hg(19)

8:42320525 (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).