Mutation details:

Protein level identifier (NP_060575):

p.Asn75Ile

cDNA level identifier (NM_018105):

c.224A>T

Gene level identifier:

g.4097A>T

Reference, alternative allele:

T, A

Genomic location hg(19)

8:42694372 (not available on ExAC)

Gene name:

THAP1

Consequence:

missense

Pathogenicity scoring:

Probably pathogenic

CADD score:

25

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

4 heterozygous (4 in total).