Mutation details:

cDNA level identifier (NM_018713):

c.719-5_*276+97693

Gene level identifier:

g.40149_43475+97693del

Archive identifier/Other designation:

deletion of exons 3-4

Reference, alternative allele:

C+101138, C

Genomic location hg(19)

1:219990802 (not available on ExAC)

Gene name:

SLC30A10

Consequence:

structural variation

Pathogenicity scoring:

Probably pathogenic

CADD score:

not available

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

4 homozygous (4 in total).