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
RS2131809467 Health Risk Likely pathogenic Anauxetic dysplasia, Metaphyseal chondrodysplasia, McKusick type
RS2131809584 Health Risk Likely pathogenic Anauxetic dysplasia, Anauxetic dysplasia
RS2131809742 Health Risk Likely pathogenic Anauxetic dysplasia, Anauxetic dysplasia
RS2131809783 Health Risk Likely pathogenic Metaphyseal chondrodysplasia, McKusick type, Metaphyseal chondrodysplasia
RS2131809964 Health Risk Likely pathogenic Metaphyseal chondrodysplasia, McKusick type, Metaphyseal chondrodysplasia
RS2131809978 Health Risk Likely pathogenic Metaphyseal chondrodysplasia, McKusick type, Metaphyseal chondrodysplasia
RS549085067 Health Risk Likely pathogenic Anauxetic dysplasia, Metaphyseal chondrodysplasia, McKusick type
RS551450545 Health Risk Likely pathogenic Metaphyseal chondrodysplasia, McKusick type, Anauxetic dysplasia
RS727502777 Health Risk Likely pathogenic Metaphyseal chondrodysplasia, McKusick type, Anauxetic dysplasia
RS752709977 Health Risk Likely pathogenic Metaphyseal chondrodysplasia, McKusick type, Metaphyseal dysplasia without hypotrichosis
RS753874439 Health Risk Likely pathogenic Anauxetic dysplasia, Metaphyseal chondrodysplasia, McKusick type
RS759665242 Health Risk Likely pathogenic Metaphyseal chondrodysplasia, McKusick type, Metaphyseal chondrodysplasia
RS761398394 Health Risk Likely pathogenic Metaphyseal chondrodysplasia, McKusick type, Anauxetic dysplasia
RS762145032 Health Risk Likely pathogenic Anauxetic dysplasia, Metaphyseal chondrodysplasia, McKusick type
RS930432793 Health Risk Likely pathogenic Anauxetic dysplasia, Metaphyseal chondrodysplasia, McKusick type
RS936059863 Health Risk Likely pathogenic Metaphyseal dysplasia without hypotrichosis, Anauxetic dysplasia, Metaphyseal chondrodysplasia
RS1004469515 Health Risk Pathogenic Metaphyseal chondrodysplasia, McKusick type, Anauxetic dysplasia
RS1218494857 Health Risk Pathogenic Metaphyseal chondrodysplasia, McKusick type, Anauxetic dysplasia
RS1230629953 Health Risk Pathogenic Metaphyseal chondrodysplasia, McKusick type, Metaphyseal chondrodysplasia
RS1340624774 Health Risk Pathogenic Metaphyseal chondrodysplasia, McKusick type, Anauxetic dysplasia
RS1408633343 Health Risk Pathogenic Anauxetic dysplasia, Anauxetic dysplasia, Metaphyseal chondrodysplasia
RS1472119885 Health Risk Pathogenic Anauxetic dysplasia, Anauxetic dysplasia
RS1554651360 Health Risk Pathogenic Anauxetic dysplasia, Anauxetic dysplasia, Anauxetic dysplasia
RS1554651364 Health Risk Pathogenic Anauxetic dysplasia, Anauxetic dysplasia
RS1554651365 Health Risk Pathogenic Metaphyseal chondrodysplasia, McKusick type, Anauxetic dysplasia
RS1554651368 Health Risk Pathogenic Metaphyseal chondrodysplasia, McKusick type, Anauxetic dysplasia
RS1554651373 Health Risk Pathogenic Metaphyseal chondrodysplasia, McKusick type, Anauxetic dysplasia
RS1554651375 Health Risk Pathogenic Anauxetic dysplasia, Anauxetic dysplasia
RS1554651379 Health Risk Pathogenic Anauxetic dysplasia, Anauxetic dysplasia
RS1554651382 Health Risk Pathogenic Metaphyseal chondrodysplasia, McKusick type, Anauxetic dysplasia
RS1554651385 Health Risk Pathogenic Anauxetic dysplasia, Anauxetic dysplasia
RS1554651387 Health Risk Pathogenic Anauxetic dysplasia, Anauxetic dysplasia, Anauxetic dysplasia
RS1554651396 Health Risk Pathogenic Metaphyseal chondrodysplasia, McKusick type, Anauxetic dysplasia
RS1554651397 Health Risk Pathogenic Metaphyseal chondrodysplasia, McKusick type, Anauxetic dysplasia
RS1554651399 Health Risk Pathogenic Anauxetic dysplasia, Anauxetic dysplasia
RS1554651400 Health Risk Pathogenic Metaphyseal dysplasia without hypotrichosis, Metaphyseal chondrodysplasia, McKusick type
RS1554651405 Health Risk Pathogenic Metaphyseal chondrodysplasia, McKusick type, Anauxetic dysplasia
RS1554651413 Health Risk Pathogenic Metaphyseal chondrodysplasia, McKusick type, Anauxetic dysplasia
RS1554651414 Health Risk Pathogenic Anauxetic dysplasia, Anauxetic dysplasia
RS1554651418 Health Risk Pathogenic Metaphyseal chondrodysplasia, McKusick type, Anauxetic dysplasia
RS1554651423 Health Risk Pathogenic Anauxetic dysplasia, Metaphyseal chondrodysplasia, McKusick type
RS1554651424 Health Risk Pathogenic Metaphyseal chondrodysplasia, McKusick type, Anauxetic dysplasia
RS1554651428 Health Risk Pathogenic Metaphyseal chondrodysplasia, McKusick type, Anauxetic dysplasia
RS1554651430 Health Risk Pathogenic Anauxetic dysplasia, Anauxetic dysplasia, Anauxetic dysplasia
RS1554651446 Health Risk Pathogenic Metaphyseal chondrodysplasia, McKusick type, Metaphyseal chondrodysplasia
RS1554651461 Health Risk Pathogenic Metaphyseal chondrodysplasia, McKusick type, Anauxetic dysplasia
RS1554651462 Health Risk Pathogenic Metaphyseal chondrodysplasia, McKusick type, Anauxetic dysplasia
RS1554651464 Health Risk Pathogenic Anauxetic dysplasia, Anauxetic dysplasia
RS1554651469 Health Risk Pathogenic Metaphyseal dysplasia without hypotrichosis, Metaphyseal chondrodysplasia, McKusick type
RS1554651471 Health Risk Pathogenic Metaphyseal chondrodysplasia, McKusick type, Anauxetic dysplasia
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