Mutation details:

Protein level identifier (NP_006740):

p.Ile74Tyrfs*3

cDNA level identifier (NM_006749):

c.220dupT

Gene level identifier:

g.67380dupT

Archive identifier/Other designation:

p.I74Yfs*3

Reference, alternative allele:

A, AA

Genomic location hg(19)

8:42329690 (not available on ExAC)

Gene name:

SLC20A2

Consequence:

frameshift

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).