Mutation details:

Protein level identifier (NP_060575):

p.Met143Val

cDNA level identifier (NM_018105):

c.427A>G

Gene level identifier:

g.5149A>G

Reference, alternative allele:

T, C

Genomic location hg(19)

8:42693320

Gene name:

THAP1

Consequence:

missense

Pathogenicity scoring:

Possibly pathogenic

CADD score:

1

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

3 heterozygous (3 in total).

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