Mutation details:

Protein level identifier (NP_061183):

p.Gln308*

cDNA level identifier (NM_018713):

c.922C>T

Gene level identifier:

g.40357C>T

Reference, alternative allele:

G, A

Genomic location hg(19)

1:220091633 (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).

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