MIR184

microRNA 184, the group of MicroRNAs

Basic information

Region (hg38): 15:79209788-79209871

Previous symbols: [ "MIRN184" ]

Links

ENSG00000207695 ∙ NCBI:406960 ∙ OMIM:613146 ∙ HGNC:31555 ∙ ∙ ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

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

Clinical Genomic Database

Source: CGD

Condition	Inheritance	Intervention Categories	Intervention/Rationale	Manifestation Categories	References
EDICT syndrome	AD	General	Genetic knowledge may be beneficial related to issues such as selection of optimal supportive care, informed medical decision-making, prognostic considerations, and avoidance of unnecessary testing	Ophthalmologic	14638698; 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.

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.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense						0
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding	1		1		1	3
Total	1	0	1	0	1

Variants in MIR184

This is a list of pathogenic ClinVar variants found in the MIR184 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
15-79209790-A-AGTCAC			Uncertain significance (Nov 27, 2024)
15-79209826-G-T			Benign (Jan 23, 2025)
15-79209839-T-C		Developmental cataract • MIR184-related disorder	Uncertain significance (Feb 13, 2024)
15-79209842-G-A			Likely benign (Nov 28, 2023)
15-79209844-C-T		EDICT syndrome	Pathogenic (Jan 25, 2012)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

• Pathway: Alzheimers Disease (Consensus)