rs138464551

This variant is located in the PHF2 gene.

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ClinVar annotation

Likely Benign★★★☆
4 submitters2 publications

not provided; Ovarian serous cystadenocarcinoma; Acute myeloid leukemia; Sarcoma; Thyroid cancer, nonmedullary, 1; Chronic lymphocytic leukemia/small lymphocytic lymphoma; Clear cell carcinoma of kidney; Colon adenocarcinoma; Lung cancer; Familial cancer of breast

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About PHF2

This gene encodes a protein which contains a zinc finger-like PHD (plant homeodomain) finger, distinct from other classes of zinc finger motifs, and a hydrophobic and highly conserved domain. The PHD finger shows the typical Cys4-His-Cys3 arrangement. PHD finger genes are thought to belong to a diverse group of transcriptional regulators possibly affecting eukaryotic gene expression by influencing chromatin structure. [provided by RefSeq, Jul 2008]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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