Mutation details:

Protein level identifier (NP_061183):

p.Ile260del

cDNA level identifier (NM_018713):

c.780_782delCAT

Gene level identifier:

g.40215_40217delCAT

Reference, alternative allele:

TATG, T

Genomic location hg(19)

1:220091772 (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:

2 homozygous (2 in total).