RMRP
  • 30
    Haplo
    Score
  • -5
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
RMRP (HGNC:10031) HGNC Entrez Ensembl OMIM UCSC GeneReviews LOVD LSDB ClinVar
HGNC Name
RNA component of mitochondrial RNA processing endoribonuclease
Gene type
non-coding RNA
Locus type
RNA, misc
Previous symbols
CHH
Alias symbols
RMRPR, RRP2, NME1
%HI
0(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
Cytoband
9p13.3
Genomic Coordinates
GRCh37/hg19: chr9:35657748-35658015 NCBI Ensembl UCSC
GRCh38/hg38: chr9:35657750-35658019 NCBI Ensembl UCSC

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-12072
ClinGen Curation ID:
CCID:007769
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype (30)
Read full report...
Triplosensitivity:
Not Yet Evaluated
Read full report...
Last Evaluated:
08/22/2016

Haploinsufficiency (HI) Score Details

HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype (Disclaimer)
HI Disease:

Triplosensitivity (TS) Score Details

TS Evidence Strength:
Not Yet Evaluated (Disclaimer)

Genomic View

Select assembly: (NC_000009.11) (NC_000009.12)