Mutation details:

Protein level identifier (NP_006740):

p.Val195Leufs*62

cDNA level identifier (NM_006749):

c.583_584delGT

Gene level identifier:

g.79626_79627delGT

Archive identifier/Other designation:

p.V195Lfs*62

Reference, alternative allele:

GAC, G

Genomic location hg(19)

8:42317442 (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:

3 heterozygous (3 in total).