Mutation details:

Protein level identifier:

p.Glu37Glyfs*10

cDNA level identifier:

c.109dupG

Genome level identifier:

g.3980dupG

Reference, alternative allele:

C, CC

Genetic location (hg19):

chr8:42694487 (not available on ExAC)

Gene name:

THAP1

Consequence:

frameshift

Pathogenicity scoring:

probably pathogenic

CADD score:

35

Positive functional evidence:

null; allele

Number of all included cases:

4 heterozygous (4 in total).

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