Mutation details:

Protein level identifier (NP_006740):

p.Leu170*

cDNA level identifier (NM_006749):

c.509delT

Gene level identifier:

g.76540_76540delT

Archive identifier/Other designation:

p.L170*

Reference, alternative allele:

TA, T

Genomic location hg(19)

8:42320529 (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:

7 heterozygous (7 in total).