Mutation details:

Protein level identifier (NP_061183):

p.Tyr30*

cDNA level identifier (NM_018713):

c.90C>G

Gene level identifier:

g.30297C>G

Reference, alternative allele:

G, C

Genomic location hg(19)

1:220101693 (not available on ExAC)

Gene name:

SLC30A10

Consequence:

nonsense

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).