rs17147682

This variant is located in the KLHL7 gene.

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ClinVar annotation

Benign★☆☆☆
2 submitters

PERCHING syndrome; Uterine corpus endometrial carcinoma; Malignant lymphoma, large B-cell, diffuse; Acute myeloid leukemia; Nonpapillary renal cell carcinoma; Melanoma; Hepatocellular carcinoma; Sarcoma; Ovarian serous cystadenocarcinoma; Thymoma; Thyroid cancer, nonmedullary, 1

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About KLHL7

This gene encodes a BTB-Kelch-related protein. The encoded protein may be involved in protein degradation. Mutations in this gene have been associated with retinitis pigmentosa 42. [provided by RefSeq, Feb 2010]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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