Mutation details:

Protein level identifier (NP_061183):

p.Val256del

cDNA level identifier (NM_018713):

c.765_767delGGT

Gene level identifier:

g.40200_40202delGGT

Reference, alternative allele:

GACC, G

Genomic location hg(19)

1:220091787 (not available on ExAC)

Gene name:

SLC30A10

Consequence:

in frame indel

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).