RPL3L Chromosome 16

Ribosomal protein L3 like
7 variants 7 Health Risk

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What This Gene Does
This gene encodes a protein that shares sequence similarity with ribosomal protein L3. The protein belongs to the L3P family of ribosomal proteins. Unlike the ubiquitous expression of ribosomal protein genes, this gene has a tissue-specific pattern of expression, with the highest levels of expression in skeletal muscle and heart. It is not currently known whether the encoded protein is a functional ribosomal protein or whether it has evolved a function that is independent of the ribosome. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
L ribosomal proteins
Locus Type
gene with protein product
Location
16p13.3
Ensembl
ENSG00000140986
Associated Conditions (3)
Cardiomyopathy
dilated
2D
Key Variants
All Variants (7)
RSID Category Clinical Significance Conditions
RS140192228 Health Risk Conflicting classifications of pathogenicity
RS770344400 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, dilated, 2D
RS143544112 Health Risk Pathogenic Cardiomyopathy, dilated, 2D
RS1465045317 Health Risk Pathogenic Cardiomyopathy, dilated, 2D
RS2150861462 Health Risk Pathogenic Cardiomyopathy, dilated, 2D
RS376654625 Health Risk Pathogenic Cardiomyopathy, dilated, 2D
RS924125081 Health Risk Pathogenic Cardiomyopathy, dilated, 2D
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