Mutation details:

Protein level identifier (NP_006740):

p.Gly312Valfs*8

cDNA level identifier (NM_006749):

c.935-1G>A

Gene level identifier:

g.101974G>A

Archive identifier/Other designation:

skipping of exon 8 on mRNA level

Reference, alternative allele:

C, T

Genomic location hg(19)

8:42295096 (not available on ExAC)

Gene name:

SLC20A2

Consequence:

splice site

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).