Mutation details:

Protein level identifier:

p.Gly165Alafs*27

cDNA level identifier:

c.492delC

Genome level identifier:

g.30699delC

Reference, alternative allele:

CG, C

Genetic location (hg19):

chr1:220101290 (not available on ExAC)

Gene name:

SLC30A10

Consequence:

frameshift

Pathogenicity scoring:

probably pathogenic

CADD score:

24

Positive functional evidence:

not available

Number of all included cases:

3 homozygous (3 in total).

×