Mutation details:

Protein level identifier:

p.Arg29Gln

cDNA level identifier:

c.86G>A

Genome level identifier:

g.3959G>A

Reference, alternative allele:

C, T

Genetic location (hg19):

chr8:42694510

Gene name:

THAP1

Consequence:

missense

Pathogenicity scoring:

probably pathogenic

CADD score:

34

Positive functional evidence:

+; 21425335; 25088175

Number of all included cases:

8 heterozygous (8 in total).

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