Mutation details:

Protein level identifier (NP_060575):

p.Leu72Hisfs*14

cDNA level identifier (NM_018105):

c.214_215InsA

Gene level identifier:

g.4087_4088insA

Reference, alternative allele:

A, AA

Genomic location hg(19)

8:42694381 (not available on ExAC)

Gene name:

THAP1

Consequence:

frameshift

Pathogenicity scoring:

Probably pathogenic

CADD score:

33

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 heterozygous (1 in total).

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