Mutation details:

Protein level identifier:

p.Ser51Arg

cDNA level identifier:

c.153C>G

Genome level identifier:

g.4026C>G

Reference, alternative allele:

G, C

Genetic location (hg19):

chr8:42694443 (not available on ExAC)

Gene name:

THAP1

Consequence:

missense

Pathogenicity scoring:

probably pathogenic

CADD score:

27

Positive functional evidence:

not available

Number of all included cases:

18 heterozygous (18 in total).

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