Mutation details:

Protein level identifier:

p.Asn69del

cDNA level identifier:

c.207_209delCAA

Genome level identifier:

g.4080_4082delCAA

Reference, alternative allele:

CTTG, C

Genetic location (hg19):

chr8:42694386 (not available on ExAC)

Gene name:

THAP1

Consequence:

in frame indel

Pathogenicity scoring:

probably pathogenic

CADD score:

20

Positive functional evidence:

not available

Number of all included cases:

5 heterozygous (5 in total).

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