Mutation details:

Protein level identifier (NP_006740):

p.Ile285Serfs*33

cDNA level identifier (NM_006749):

c.852delC

Gene level identifier:

g.100020delC

Reference, alternative allele:

TG, T

Genomic location hg(19)

8:42297049

Gene name:

SLC20A2

Consequence:

frameshift

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).