rs147553739

This variant is located in the PDCD5 gene.

ClinVar annotation

Uncertain Significance☆☆☆
1 submitter

not specified

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About PDCD5

This gene encodes a protein that is upregulated during apoptosis where it translocates rapidly from the cytoplasm to the nucleus. The encoded protein may be an important regulator of K(lysine) acetyltransferase 5 (a protein involved in transcription, DNA damage response and cell cycle control) by inhibiting its proteasome-dependent degradation. Pseudogenes have been identified on chromosomes 5 and 12 [provided by RefSeq, Dec 2010]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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