Mutation details:

Protein level identifier:

p.Ser21Cys

cDNA level identifier:

c.62C>G

Genome level identifier:

g.293C>G

Reference, alternative allele:

G, C

Genetic location (hg19):

chr8:42698176 (not available on ExAC)

Gene name:

THAP1

Consequence:

missense

Pathogenicity scoring:

probably pathogenic

CADD score:

28

Positive functional evidence:

not available

Number of all included cases:

8 heterozygous (8 in total).

×