Mutation details:

Protein level identifier (NP_061183):

p.Ser41del

cDNA level identifier (NM_018713):

c.122_124delCCT

Gene level identifier:

g.30329_30331delCCT

Reference, alternative allele:

AAGG, A

Genomic location hg(19)

1:220101658 (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).