rs146249322

This variant is located in the ELL2 gene.

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ClinVar annotation

Likely Benign★★★☆
3 submitters2 publications

not provided; Thyroid cancer, nonmedullary, 1; Melanoma; Cholangiocarcinoma; Acute myeloid leukemia; Colorectal cancer; Ovarian serous cystadenocarcinoma; Nonpapillary renal cell carcinoma; Cervical cancer; Clear cell carcinoma of kidney; Colon adenocarcinoma; Sarcoma; Lung cancer; Familial cancer of breast

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About ELL2

Predicted to enable cis-regulatory region sequence-specific DNA binding activity. Involved in snRNA transcription by RNA polymerase II. Located in nucleoplasm. Part of transcription elongation factor complex. [provided by Alliance of Genome Resources, Jul 2025]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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