rs115833267

This variant is located in the EPB41L5 gene.

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ClinVar annotation

Likely Benign★★★☆
3 submitters1 publication

not provided; Malignant tumor of esophagus; Cervical cancer; Uterine corpus endometrial carcinoma; Colon adenocarcinoma; Uterine carcinosarcoma; Melanoma; Hepatocellular carcinoma; Sarcoma; Gastric cancer; Lymphoma; Ovarian serous cystadenocarcinoma; Clear cell carcinoma of kidney; Thyroid cancer, nonmedullary, 1; Acute myeloid leukemia

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About EPB41L5

Predicted to enable cytoskeletal protein binding activity and protein domain specific binding activity. Predicted to be involved in actomyosin structure organization. Predicted to act upstream of or within several processes, including chordate embryonic development; embryonic foregut morphogenesis; and mesoderm morphogenesis. Located in cytosol; nucleoplasm; and plasma membrane. [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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