Mutation details:

Protein level identifier (NP_061183):

p.Leu349Pro

cDNA level identifier (NM_018713):

c.1046T>C

Gene level identifier:

g.42787T>C

Reference, alternative allele:

A, G

Genomic location hg(19)

1:220089203 (not available on ExAC)

Gene name:

SLC30A10

Consequence:

missense

Pathogenicity scoring:

Probably pathogenic

CADD score:

not available

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 homozygous (1 in total).