Mutation details:

Protein level identifier (NP_006740):

p.Pro397Alafs*18

cDNA level identifier (NM_006749):

c.1187dupT

Gene level identifier:

g.102227dupT

Reference, alternative allele:

A, AA

Genomic location hg(19)

8:42294842 (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).