Mutation details:

Protein level identifier (NP_006740):

p.Ile608_Trp616del

cDNA level identifier (NM_006749):

c.1822_1848delATCCGCTCCCGCAAGGCTGTGGACTGG

Gene level identifier:

g.121612_121638delATCCGCTCCCGCAAGGCTGTGGACTGG

Reference, alternative allele:

GCCAGTCCACAGCCTTGCGGGAGCGGAT, G

Genomic location hg(19)

8:42275431 (not available on ExAC)

Gene name:

SLC20A2

Consequence:

in frame indel

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).