Mutation details:

cDNA level identifier (NM_018713):

c.958+1G>C

Gene level identifier:

g.40394G>C

Reference, alternative allele:

C, G

Genomic location hg(19)

1:220091596 (not available on ExAC)

Gene name:

SLC30A10

Consequence:

splice site

Pathogenicity scoring:

Probably pathogenic

CADD score:

not available

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

2 homozygous (2 in total).