RMRP Chromosome 9

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

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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
RS1554651473 Health Risk Pathogenic Metaphyseal chondrodysplasia, McKusick type, Anauxetic dysplasia
RS1554651479 Health Risk Pathogenic Anauxetic dysplasia, Anauxetic dysplasia, Anauxetic dysplasia
RS1554651481 Health Risk Pathogenic Metaphyseal chondrodysplasia, McKusick type, Anauxetic dysplasia
RS1554651486 Health Risk Pathogenic Metaphyseal chondrodysplasia, McKusick type, Anauxetic dysplasia
RS1554651499 Health Risk Pathogenic Metaphyseal chondrodysplasia, McKusick type, Anauxetic dysplasia
RS1554651503 Health Risk Pathogenic Metaphyseal chondrodysplasia, McKusick type, Anauxetic dysplasia
RS1554651506 Health Risk Pathogenic Metaphyseal chondrodysplasia, McKusick type, Anauxetic dysplasia
RS1554651508 Health Risk Pathogenic Anauxetic dysplasia, Metaphyseal chondrodysplasia, McKusick type
RS1554651524 Health Risk Pathogenic Metaphyseal chondrodysplasia, McKusick type, Anauxetic dysplasia
RS1554651526 Health Risk Pathogenic Metaphyseal chondrodysplasia, McKusick type, Anauxetic dysplasia
RS1554651532 Health Risk Pathogenic Metaphyseal chondrodysplasia, McKusick type, Anauxetic dysplasia
RS1554651537 Health Risk Pathogenic Anauxetic dysplasia, Anauxetic dysplasia
RS1554651543 Health Risk Pathogenic Metaphyseal chondrodysplasia, McKusick type, Anauxetic dysplasia
RS1554651552 Health Risk Pathogenic Anauxetic dysplasia, Anauxetic dysplasia
RS1563907676 Health Risk Pathogenic Anauxetic dysplasia, Anauxetic dysplasia
RS1563907686 Health Risk Pathogenic Anauxetic dysplasia, Anauxetic dysplasia
RS1563907946 Health Risk Pathogenic Metaphyseal chondrodysplasia, McKusick type, Anauxetic dysplasia
RS1563908167 Health Risk Pathogenic Anauxetic dysplasia, Metaphyseal chondrodysplasia, McKusick type
RS1563908191 Health Risk Pathogenic Anauxetic dysplasia, Anauxetic dysplasia
RS1563908212 Health Risk Pathogenic Metaphyseal chondrodysplasia, McKusick type, Anauxetic dysplasia
RS1587919406 Health Risk Pathogenic Anauxetic dysplasia, Anauxetic dysplasia
RS1823615821 Health Risk Pathogenic Anauxetic dysplasia 1, Anauxetic dysplasia 1
RS1823630124 Health Risk Pathogenic Anauxetic dysplasia, Anauxetic dysplasia
RS1823630945 Health Risk Pathogenic Anauxetic dysplasia, Anauxetic dysplasia
RS1823638217 Health Risk Pathogenic Anauxetic dysplasia, Anauxetic dysplasia
RS1823639598 Health Risk Pathogenic Metaphyseal chondrodysplasia, McKusick type, Anauxetic dysplasia
RS1823640030 Health Risk Pathogenic Anauxetic dysplasia, Anauxetic dysplasia
RS1823647798 Health Risk Pathogenic Anauxetic dysplasia, Anauxetic dysplasia
RS2131808768 Health Risk Pathogenic Anauxetic dysplasia, Metaphyseal chondrodysplasia, McKusick type
RS2131809514 Health Risk Pathogenic Anauxetic dysplasia, Anauxetic dysplasia
RS2131809737 Health Risk Pathogenic Anauxetic dysplasia, Anauxetic dysplasia
RS2131809894 Health Risk Pathogenic Anauxetic dysplasia, Anauxetic dysplasia
RS2131809930 Health Risk Pathogenic Anauxetic dysplasia, Anauxetic dysplasia
RS2131810104 Health Risk Pathogenic Anauxetic dysplasia, Anauxetic dysplasia
RS2131810166 Health Risk Pathogenic Anauxetic dysplasia, Anauxetic dysplasia
RS2131810269 Health Risk Pathogenic Anauxetic dysplasia, Anauxetic dysplasia
RS2131810278 Health Risk Pathogenic Anauxetic dysplasia, Anauxetic dysplasia
RS2131810342 Health Risk Pathogenic Anauxetic dysplasia, Anauxetic dysplasia
RS2490602769 Health Risk Pathogenic Anauxetic dysplasia, Anauxetic dysplasia
RS2490602783 Health Risk Pathogenic Anauxetic dysplasia, Metaphyseal chondrodysplasia, McKusick type
RS2490602876 Health Risk Pathogenic Anauxetic dysplasia, Anauxetic dysplasia
RS2490602916 Health Risk Pathogenic Anauxetic dysplasia, Anauxetic dysplasia
RS2490602929 Health Risk Pathogenic Anauxetic dysplasia, Anauxetic dysplasia
RS2490602952 Health Risk Pathogenic Anauxetic dysplasia, Anauxetic dysplasia
RS2490602964 Health Risk Pathogenic Anauxetic dysplasia, Anauxetic dysplasia
RS2490602971 Health Risk Pathogenic Anauxetic dysplasia, Anauxetic dysplasia
RS2490603023 Health Risk Pathogenic Anauxetic dysplasia, Anauxetic dysplasia
RS2490603242 Health Risk Pathogenic Anauxetic dysplasia, Anauxetic dysplasia
RS2490603296 Health Risk Pathogenic Anauxetic dysplasia, Anauxetic dysplasia
RS2490603538 Health Risk Pathogenic Anauxetic dysplasia, Anauxetic dysplasia
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