Mutation details:

Protein level identifier (NP_006740):

p.Leu87Hisfs*6

cDNA level identifier (NM_006749):

c.260_261delTC

Gene level identifier:

g.67421_67422delTC

Archive identifier/Other designation:

p.L87Hfs*6

Reference, alternative allele:

TGA, T

Genomic location hg(19)

8:42329647 (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).