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ZNF136

Synonyms
pHZ-20
External resources
Summary
This gene encodes a zinc finger protein containing a Kruppel-associated box (KRAB) A-box domain at its N-terminus, followed by fourteen contiguous C2H2 zinc finger domains and a degenerate zinc finger. The KRAB A-box showed weak transcriptional repressor activity in a reporter gene assay. Alternative splicing results in multiple transcript variants encoding different isoforms.

Variant counts

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
0
Likely pathogenic
0
VUS
602
Likely benign
341
Benign
0

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on ZNF136 gene.

Phenotype class
Patients in 3billion (%)

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