Mutation details:

Protein level identifier (NP_061183):

p.Gly165Alafs*27

cDNA level identifier (NM_018713):

c.492delC

Gene level identifier:

g.30699delC

Reference, alternative allele:

CG, C

Genomic location hg(19)

1:220101290 (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:

3 homozygous (3 in total).