Mutation details:

Protein level identifier (NP_061183):

p.Ala105_Pro107del

cDNA level identifier (NM_018713):

c.314_322delCCCGGCCCG

Gene level identifier:

g.30521_30529delCCCGGCCCG

Reference, alternative allele:

TCGGGCCGGG, T

Genomic location hg(19)

1:220101460 (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).