Mutation details:

Protein level identifier (NP_006740):

p.Gln491_Leu493del

cDNA level identifier (NM_006749):

c.1470_1478delGCAGGTCCT

Gene level identifier:

g.102510_102518delGCAGGTCCT

Archive identifier/Other designation:

p.Q491_L493del

Reference, alternative allele:

GAGGACCTGC, G

Genomic location hg(19)

8:42294551 (not available on ExAC)

Gene name:

SLC20A2

Consequence:

in frame indel

Pathogenicity scoring:

Possibly pathogenic

CADD score:

not available

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 heterozygous (1 in total).