Mutation details:

Protein level identifier (NP_061183):

p.Thr196Profs*17

cDNA level identifier (NM_018713):

c.585delG

Gene level identifier:

g.30792delG

Reference, alternative allele:

TC, T

Genomic location hg(19)

1:220101197 (not available on ExAC)

Gene name:

SLC30A10

Consequence:

frameshift

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).