rs12974508

This variant is located in the MRPL34 gene.

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GWAS Catalog Trait Associations (1)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

triple-negative breast cancer

Jia G et al. “Genome-wide association analyses of breast cancer in women of African ancestry identify new susceptibility loci and improve risk prediction.” Nature Genetics 56(5):819-826 (2024)
Allele C
OR 1.38
p 1.0e-23
N 19,122
Large GWAS
African American or Afro-Caribbean, Sub-Saharan African, African unspecified

About MRPL34

Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. [provided by RefSeq, Jul 2008]

View all MRPL34 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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