Mutation details:

cDNA level identifier:

c.71+9C>A

Genome level identifier:

g.311C>A

Reference, alternative allele:

G, T

Genetic location (hg19):

chr8:42698158

Gene name:

THAP1

Consequence:

unknown effect

Pathogenicity scoring:

possibly pathogenic

CADD score:

11

Positive functional evidence:

24936516

Number of all included cases:

46 heterozygous (46 in total).

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