Mutation details:

Protein level identifier:

p.Gln97*

cDNA level identifier:

c.289C>T

Genome level identifier:

g.5011C>T

Reference, alternative allele:

G, A

Genetic location (hg19):

chr8:42693458 (not available on ExAC)

Gene name:

THAP1

Consequence:

nonsense

Pathogenicity scoring:

probably pathogenic

CADD score:

35

Positive functional evidence:

null; allele

Number of all included cases:

14 heterozygous, 2 compound heterozygous (16 in total).

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