Mutation details:

Protein level identifier (NP_006740):

p.Tyr386*

cDNA level identifier (NM_006749):

c.1158C>A

Gene level identifier:

g.102198C>A

Archive identifier/Other designation:

p.Y386*

Reference, alternative allele:

G, T

Genomic location hg(19)

8:42294872 (not available on ExAC)

Gene name:

SLC20A2

Consequence:

nonsense

Pathogenicity scoring:

Probably pathogenic

CADD score:

not available

Phosphorylation activity:

Positive functional evidence:

28578517;

Number of all included cases:

3 heterozygous (3 in total).

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