Mutation details:

Protein level identifier:

p.Gln154*

cDNA level identifier:

c.460C>T

Genome level identifier:

g.30667C>T

Reference, alternative allele:

G, A

Genetic location (hg19):

chr1:220101323 (not available on ExAC)

Gene name:

SLC30A10

Consequence:

nonsense

Pathogenicity scoring:

probably pathogenic

CADD score:

35

Positive functional evidence:

not available

Number of all included cases:

1 homozygous (1 in total).

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