RMRP Chromosome 9

RNA component of mitochondrial RNA processing endoribonuclease
196 variants 196 Health Risk

Upload your DNA to see your personal genotypes for variants in RMRP.

What This Gene Does
This gene encodes the RNA component of mitochondrial RNA processing endoribonuclease, which cleaves mitochondrial RNA at a priming site of mitochondrial DNA replication. This RNA also interacts with the telomerase reverse transcriptase catalytic subunit to form a distinct ribonucleoprotein complex that has RNA-dependent RNA polymerase activity and produces double-stranded RNAs that can be processed into small interfering RNA. Mutations in this gene are associated with cartilage-hair hypoplasia.[provided by RefSeq, Mar 2010]
Gene Info
Gene Group
RNase MRP complex subunits
Locus Type
RNA, misc
Location
9p13.3
Ensembl
ENSG00000277027
Associated Conditions (8)
Metaphyseal chondrodysplasia
McKusick type
Anauxetic dysplasia
Anauxetic dysplasia 1
RMRP-related disorder
Metaphyseal dysplasia without hypotrichosis
Cartilage-Hair Hypoplasia-Anauxetic Dysplasia Spectrum Disorders
Skeletal dysplasia
Key Variants
RS1064793373
Conflicting classifications of pathogenicity
Metaphyseal chondrodysplasia, McKusick type, Anauxetic dysplasia
Health Risk
RS1170858087
Conflicting classifications of pathogenicity
Anauxetic dysplasia 1, Metaphyseal chondrodysplasia, McKusick type
Health Risk
RS1554651349
Conflicting classifications of pathogenicity
Anauxetic dysplasia, Anauxetic dysplasia, Metaphyseal chondrodysplasia
Health Risk
RS1554651381
Conflicting classifications of pathogenicity
Metaphyseal chondrodysplasia, McKusick type, Anauxetic dysplasia
Health Risk
RS1823632816
Conflicting classifications of pathogenicity
Anauxetic dysplasia, Metaphyseal chondrodysplasia, McKusick type
Health Risk
RS2131809702
Conflicting classifications of pathogenicity
Anauxetic dysplasia, Anauxetic dysplasia
Health Risk
RS367843919
Conflicting classifications of pathogenicity
Anauxetic dysplasia, Anauxetic dysplasia
Health Risk
RS372044910
Conflicting classifications of pathogenicity
Metaphyseal chondrodysplasia, McKusick type, Anauxetic dysplasia
Health Risk
RS387906533
Conflicting classifications of pathogenicity
Anauxetic dysplasia 1, Anauxetic dysplasia, Anauxetic dysplasia 1
Health Risk
RS531089786
Conflicting classifications of pathogenicity
Anauxetic dysplasia, Anauxetic dysplasia
Health Risk
RS555890962
Conflicting classifications of pathogenicity
Metaphyseal chondrodysplasia, McKusick type, Anauxetic dysplasia
Health Risk
RS578091934
Conflicting classifications of pathogenicity
Anauxetic dysplasia, RMRP-related disorder, Anauxetic dysplasia
Health Risk
All Variants (196)
RSID Category Clinical Significance Conditions
RS1064793373 Health Risk Conflicting classifications of pathogenicity Metaphyseal chondrodysplasia, McKusick type, Anauxetic dysplasia
RS1170858087 Health Risk Conflicting classifications of pathogenicity Anauxetic dysplasia 1, Metaphyseal chondrodysplasia, McKusick type
RS1554651349 Health Risk Conflicting classifications of pathogenicity Anauxetic dysplasia, Anauxetic dysplasia, Metaphyseal chondrodysplasia
RS1554651381 Health Risk Conflicting classifications of pathogenicity Metaphyseal chondrodysplasia, McKusick type, Anauxetic dysplasia
RS1823632816 Health Risk Conflicting classifications of pathogenicity Anauxetic dysplasia, Metaphyseal chondrodysplasia, McKusick type
RS2131809702 Health Risk Conflicting classifications of pathogenicity Anauxetic dysplasia, Anauxetic dysplasia
RS367843919 Health Risk Conflicting classifications of pathogenicity Anauxetic dysplasia, Anauxetic dysplasia
RS372044910 Health Risk Conflicting classifications of pathogenicity Metaphyseal chondrodysplasia, McKusick type, Anauxetic dysplasia
RS387906533 Health Risk Conflicting classifications of pathogenicity Anauxetic dysplasia 1, Anauxetic dysplasia, Anauxetic dysplasia 1
RS531089786 Health Risk Conflicting classifications of pathogenicity Anauxetic dysplasia, Anauxetic dysplasia
RS555890962 Health Risk Conflicting classifications of pathogenicity Metaphyseal chondrodysplasia, McKusick type, Anauxetic dysplasia
RS578091934 Health Risk Conflicting classifications of pathogenicity Anauxetic dysplasia, RMRP-related disorder, Anauxetic dysplasia
RS7024732 Health Risk Conflicting classifications of pathogenicity Anauxetic dysplasia, Anauxetic dysplasia
RS756128568 Health Risk Conflicting classifications of pathogenicity Anauxetic dysplasia, Anauxetic dysplasia
RS902313238 Health Risk Conflicting classifications of pathogenicity Anauxetic dysplasia 1, Anauxetic dysplasia, Anauxetic dysplasia
RS991322091 Health Risk Conflicting classifications of pathogenicity Anauxetic dysplasia, RMRP-related disorder, Anauxetic dysplasia
RS1013239356 Health Risk Likely pathogenic Anauxetic dysplasia, Metaphyseal chondrodysplasia, McKusick type
RS1085307765 Health Risk Likely pathogenic Metaphyseal chondrodysplasia, McKusick type, Metaphyseal chondrodysplasia
RS1156413585 Health Risk Likely pathogenic Metaphyseal chondrodysplasia, McKusick type, Anauxetic dysplasia
RS1364719732 Health Risk Likely pathogenic Anauxetic dysplasia, Anauxetic dysplasia
RS1383432106 Health Risk Likely pathogenic Anauxetic dysplasia, Anauxetic dysplasia 1, Metaphyseal chondrodysplasia
RS1554651153 Health Risk Likely pathogenic Metaphyseal chondrodysplasia, McKusick type, Metaphyseal chondrodysplasia
RS1554651395 Health Risk Likely pathogenic Metaphyseal chondrodysplasia, McKusick type, Metaphyseal chondrodysplasia
RS1554651411 Health Risk Likely pathogenic Metaphyseal chondrodysplasia, McKusick type, Anauxetic dysplasia
RS1554651439 Health Risk Likely pathogenic Metaphyseal chondrodysplasia, McKusick type, Anauxetic dysplasia
RS1554651451 Health Risk Likely pathogenic Metaphyseal chondrodysplasia, McKusick type, Metaphyseal chondrodysplasia
RS1554651455 Health Risk Likely pathogenic Metaphyseal chondrodysplasia, McKusick type, Metaphyseal chondrodysplasia
RS1554651466 Health Risk Likely pathogenic Metaphyseal chondrodysplasia, McKusick type, Metaphyseal chondrodysplasia
RS1554651489 Health Risk Likely pathogenic Metaphyseal chondrodysplasia, McKusick type, Anauxetic dysplasia
RS1554651505 Health Risk Likely pathogenic Metaphyseal chondrodysplasia, McKusick type, Metaphyseal chondrodysplasia
RS1554651507 Health Risk Likely pathogenic Metaphyseal chondrodysplasia, McKusick type, Anauxetic dysplasia
RS1554651544 Health Risk Likely pathogenic Metaphyseal chondrodysplasia, McKusick type, Anauxetic dysplasia
RS1563907859 Health Risk Likely pathogenic Anauxetic dysplasia, Metaphyseal chondrodysplasia, McKusick type
RS1587919053 Health Risk Likely pathogenic Anauxetic dysplasia, Metaphyseal chondrodysplasia, McKusick type
RS1587919129 Health Risk Likely pathogenic Metaphyseal chondrodysplasia, McKusick type, Metaphyseal chondrodysplasia
RS1587919165 Health Risk Likely pathogenic Metaphyseal chondrodysplasia, McKusick type, Metaphyseal chondrodysplasia
RS1823629969 Health Risk Likely pathogenic Anauxetic dysplasia, Anauxetic dysplasia
RS1823636018 Health Risk Likely pathogenic Anauxetic dysplasia, Anauxetic dysplasia
RS1823637418 Health Risk Likely pathogenic Anauxetic dysplasia, Anauxetic dysplasia
RS1823637491 Health Risk Likely pathogenic Metaphyseal chondrodysplasia, McKusick type, Metaphyseal chondrodysplasia
RS1823637755 Health Risk Likely pathogenic Anauxetic dysplasia, Anauxetic dysplasia
RS1823638952 Health Risk Likely pathogenic Metaphyseal chondrodysplasia, McKusick type, Metaphyseal chondrodysplasia
RS1823639713 Health Risk Likely pathogenic Metaphyseal chondrodysplasia, McKusick type, Anauxetic dysplasia
RS1823640657 Health Risk Likely pathogenic Anauxetic dysplasia, Metaphyseal chondrodysplasia, McKusick type
RS1823641711 Health Risk Likely pathogenic Anauxetic dysplasia, Anauxetic dysplasia
RS1823643256 Health Risk Likely pathogenic Anauxetic dysplasia, Anauxetic dysplasia
RS1823644118 Health Risk Likely pathogenic Anauxetic dysplasia, Anauxetic dysplasia
RS1823648167 Health Risk Likely pathogenic Metaphyseal chondrodysplasia, McKusick type, Metaphyseal chondrodysplasia
RS192060920 Health Risk Likely pathogenic Metaphyseal chondrodysplasia, McKusick type, Cartilage-Hair Hypoplasia-Anauxetic Dysplasia Spectrum Disorders
RS2131809458 Health Risk Likely pathogenic Anauxetic dysplasia, Anauxetic dysplasia
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