Mutation details:

cDNA level identifier (NM_006749):

c.730+1G>T

Gene level identifier:

g.94907G>T

Reference, alternative allele:

C, A

Genomic location hg(19)

8:42302163 (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:

1 heterozygous (1 in total).