RMRP Chromosome 9
RNA component of mitochondrial RNA processing endoribonuclease
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 |
|---|---|---|---|
| RS2490603549 | Health Risk | Pathogenic | Metaphyseal chondrodysplasia, McKusick type, Anauxetic dysplasia |
| RS2490604082 | Health Risk | Pathogenic | Anauxetic dysplasia, Anauxetic dysplasia |
| RS2490604293 | Health Risk | Pathogenic | Anauxetic dysplasia, Anauxetic dysplasia |
| RS2490604530 | Health Risk | Pathogenic | Anauxetic dysplasia, Anauxetic dysplasia |
| RS2490604636 | Health Risk | Pathogenic | Anauxetic dysplasia, Anauxetic dysplasia |
| RS751921616 | Health Risk | Pathogenic | Anauxetic dysplasia, Metaphyseal chondrodysplasia, McKusick type |
| RS752934195 | Health Risk | Pathogenic | Metaphyseal chondrodysplasia, McKusick type, Anauxetic dysplasia |
| RS772962847 | Health Risk | Pathogenic | Anauxetic dysplasia, Anauxetic dysplasia |
| RS781730798 | Health Risk | Pathogenic | Metaphyseal chondrodysplasia, McKusick type, Anauxetic dysplasia |
| RS796065036 | Health Risk | Pathogenic | Metaphyseal chondrodysplasia, McKusick type, Anauxetic dysplasia |
| RS878853178 | Health Risk | Pathogenic | Metaphyseal chondrodysplasia, McKusick type, Anauxetic dysplasia |
| RS886041234 | Health Risk | Pathogenic | — |
| RS915919453 | Health Risk | Pathogenic | Anauxetic dysplasia, Anauxetic dysplasia |
| RS920074067 | Health Risk | Pathogenic | Metaphyseal chondrodysplasia, McKusick type, Anauxetic dysplasia |
| RS937585109 | Health Risk | Pathogenic | Anauxetic dysplasia, Anauxetic dysplasia, Anauxetic dysplasia |
| RS948931144 | Health Risk | Pathogenic | Metaphyseal dysplasia without hypotrichosis, Metaphyseal chondrodysplasia, McKusick type |
| RS1179735603 | Health Risk | Pathogenic/Likely pathogenic | Metaphyseal chondrodysplasia, McKusick type, Anauxetic dysplasia |
| RS1554651376 | Health Risk | Pathogenic/Likely pathogenic | Anauxetic dysplasia, Metaphyseal chondrodysplasia, McKusick type |
| RS1554651403 | Health Risk | Pathogenic/Likely pathogenic | Metaphyseal chondrodysplasia, McKusick type, Anauxetic dysplasia |
| RS1554651404 | Health Risk | Pathogenic/Likely pathogenic | Metaphyseal chondrodysplasia, McKusick type, Anauxetic dysplasia |
| RS1554651422 | Health Risk | Pathogenic/Likely pathogenic | Metaphyseal chondrodysplasia, McKusick type, Anauxetic dysplasia |
| RS1554651425 | Health Risk | Pathogenic/Likely pathogenic | Metaphyseal chondrodysplasia, McKusick type, Anauxetic dysplasia |
| RS1554651427 | Health Risk | Pathogenic/Likely pathogenic | Metaphyseal chondrodysplasia, McKusick type, Anauxetic dysplasia |
| RS1554651445 | Health Risk | Pathogenic/Likely pathogenic | Anauxetic dysplasia, Metaphyseal chondrodysplasia, McKusick type |
| RS1554651447 | Health Risk | Pathogenic/Likely pathogenic | Metaphyseal chondrodysplasia, McKusick type, Anauxetic dysplasia |
| RS1554651453 | Health Risk | Pathogenic/Likely pathogenic | Metaphyseal chondrodysplasia, McKusick type, Anauxetic dysplasia |
| RS1554651491 | Health Risk | Pathogenic/Likely pathogenic | Metaphyseal chondrodysplasia, McKusick type, Anauxetic dysplasia |
| RS1554651512 | Health Risk | Pathogenic/Likely pathogenic | Metaphyseal chondrodysplasia, McKusick type, Anauxetic dysplasia |
| RS1554651513 | Health Risk | Pathogenic/Likely pathogenic | Metaphyseal chondrodysplasia, McKusick type, Anauxetic dysplasia |
| RS1563907710 | Health Risk | Pathogenic/Likely pathogenic | Metaphyseal chondrodysplasia, McKusick type, Anauxetic dysplasia |
| RS1563907881 | Health Risk | Pathogenic/Likely pathogenic | Metaphyseal chondrodysplasia, McKusick type, Anauxetic dysplasia |
| RS1563907883 | Health Risk | Pathogenic/Likely pathogenic | Metaphyseal chondrodysplasia, McKusick type, Anauxetic dysplasia |
| RS1823634410 | Health Risk | Pathogenic/Likely pathogenic | Metaphyseal chondrodysplasia, McKusick type, Anauxetic dysplasia |
| RS1823637565 | Health Risk | Pathogenic/Likely pathogenic | Anauxetic dysplasia, Metaphyseal chondrodysplasia, McKusick type |
| RS1823637651 | Health Risk | Pathogenic/Likely pathogenic | Anauxetic dysplasia, Metaphyseal chondrodysplasia, McKusick type |
| RS2131809417 | Health Risk | Pathogenic/Likely pathogenic | Anauxetic dysplasia, Metaphyseal chondrodysplasia, McKusick type |
| RS2131809449 | Health Risk | Pathogenic/Likely pathogenic | Anauxetic dysplasia, Metaphyseal chondrodysplasia, McKusick type |
| RS2490604150 | Health Risk | Pathogenic/Likely pathogenic | Anauxetic dysplasia, Metaphyseal chondrodysplasia, McKusick type |
| RS727502774 | Health Risk | Pathogenic/Likely pathogenic | Metaphyseal chondrodysplasia, McKusick type, Anauxetic dysplasia |
| RS727502776 | Health Risk | Pathogenic/Likely pathogenic | Metaphyseal chondrodysplasia, McKusick type, Anauxetic dysplasia |
| RS727502778 | Health Risk | Pathogenic/Likely pathogenic | Metaphyseal chondrodysplasia, McKusick type, Anauxetic dysplasia |
| RS74810894 | Health Risk | Pathogenic/Likely pathogenic | Anauxetic dysplasia, Metaphyseal chondrodysplasia, McKusick type |
| RS749667892 | Health Risk | Pathogenic/Likely pathogenic | Metaphyseal dysplasia without hypotrichosis, Anauxetic dysplasia, Metaphyseal chondrodysplasia |
| RS772443941 | Health Risk | Pathogenic/Likely pathogenic | Metaphyseal chondrodysplasia, McKusick type, Anauxetic dysplasia |
| RS786204684 | Health Risk | Pathogenic/Likely pathogenic | Metaphyseal chondrodysplasia, McKusick type, Anauxetic dysplasia 1 |
| RS940080676 | Health Risk | Pathogenic/Likely pathogenic | Anauxetic dysplasia, Metaphyseal chondrodysplasia, McKusick type |