Mutation details:

Protein level identifier:

p.Thr28Ile

cDNA level identifier:

c.83C>T

Genome level identifier:

g.3956C>T

Reference, alternative allele:

G, A

Genetic location (hg19):

chr8:42694513 (not available on ExAC)

Gene name:

THAP1

Consequence:

missense

Pathogenicity scoring:

probably pathogenic

CADD score:

21

Positive functional evidence:

not available

Number of all included cases:

4 heterozygous (4 in total).

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