MIR184

microRNA 184, the group of MicroRNAs

Basic information

Region (hg38): 15:79209788-79209871

Previous symbols: [ "MIRN184" ]

Links

ENSG00000207695NCBI:406960OMIM:613146HGNC:31555GenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

  • EDICT syndrome (Definitive), mode of inheritance: AD
  • EDICT syndrome (Strong), mode of inheritance: AD

Clinical Genomic Database

Source: CGD

ConditionInheritanceIntervention CategoriesIntervention/Rationale Manifestation CategoriesReferences
EDICT syndromeADGeneralGenetic knowledge may be beneficial related to issues such as selection of optimal supportive care, informed medical decision-making, prognostic considerations, and avoidance of unnecessary testingOphthalmologic14638698; 16735990; 21996275; 22131394

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the MIR184 gene.

  • EDICT syndrome (1 variants)
  • not provided (1 variants)
  • Developmental cataract (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MIR184 gene is commonly pathogenic or not. These statistics are base on transcript: . Only rare variants are included in the table.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

EffectPLPVUSLBBSum
synonymous
0
missense
0
nonsense
0
start loss
0
frameshift
0
splice donor/acceptor (+/-2bp)
0
Total 0 0 0 0 0
Loading clinvar variants...

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

Pathway
Alzheimers Disease (Consensus)