Mutation details:

Protein level identifier (NP_006740):

p.Glu368Glyfs*46

cDNA level identifier (NM_006749):

c.1101_1102delCG

Gene level identifier:

g.102141_102142delCG

Archive identifier/Other designation:

p.E368Gfs*46

Reference, alternative allele:

TCG, T

Genomic location hg(19)

8:42294927 (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:

2 heterozygous (2 in total).