RMND1
  • 30
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
RMND1 (HGNC:21176) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
required for meiotic nuclear division 1 homolog
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
C6orf96
Alias symbols
bA351K16.3, FLJ20627, RMD1
%HI
36.01(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0.02(Read more about gnomAD pLI score)
LOEUF
0.85(Read more about gnomAD LOEUF score)
Cytoband
6q25.1
Genomic Coordinates
GRCh37/hg19: chr6:151725897-151773261 NCBI Ensembl UCSC
GRCh38/hg38: chr6:151404762-151452126 NCBI Ensembl UCSC
MANE Select Transcript
NM_017909.4 ENST00000444024.3 (Read more about MANE Select)
Function
Required for mitochondrial translation, possibly by coordinating the assembly or maintenance of the mitochondrial ribosome (PubMed:23022098, PubMed:25604853). {ECO:0000269|PubMed:23022098, ECO:0000269|PubMed:25604853}. (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-10779
ClinGen Curation ID:
CCID:007768
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype (30)
Read full report...
Triplosensitivity:
No Evidence for Triplosensitivity (0)
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:
  • combined oxidative phosphorylation defect type 11 Monarch

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)

Genomic View

Select assembly: (NC_000006.11) (NC_000006.12)