Mutation details:

Protein level identifier (NP_060575):

p.Asn69del

cDNA level identifier (NM_018105):

c.207_209delCAA

Gene level identifier:

g.4080_4082delCAA

Reference, alternative allele:

CTTG, C

Genomic location hg(19)

8:42694386 (not available on ExAC)

Gene name:

THAP1

Consequence:

in frame indel

Pathogenicity scoring:

Probably pathogenic

CADD score:

20

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

5 heterozygous (5 in total).