Mutation details:

Protein level identifier (NP_061183):

p.Gln412Argfs*26

cDNA level identifier (NM_018713):

c.1235delA

Gene level identifier:

g.42976delA

Reference, alternative allele:

CT, C

Genomic location hg(19)

1:220089013 (not available on ExAC)

Gene name:

SLC30A10

Consequence:

frameshift

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).