MIR204

microRNA 204, the group of MicroRNA MIR204/211 family

Basic information

Region (hg38): 9:70809975-70810084

Previous symbols: [ "MIRN204" ]

Links

ENSG00000207935 ∙ NCBI:406987 ∙ OMIM:610942 ∙ HGNC:31582 ∙ ∙ ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

• familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome (Strong), mode of inheritance: AD

Clinical Genomic Database

Source: CGD

Condition	Inheritance	Intervention Categories	Intervention/Rationale	Manifestation Categories	References
Retinal dystrophy and iris coloboma with or without congenital cataract	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	26056285

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the MIR204 gene.

• not provided (14 variants)
• Familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MIR204 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		11	1	1	14
Total	1	0	11	1	1

Variants in MIR204

This is a list of pathogenic ClinVar variants found in the MIR204 region.

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

Position	Type	Phenotype	Significance	ClinVar
9-70809977-CA-C			Uncertain significance (Dec 03, 2023)
9-70809989-T-C			Uncertain significance (Jan 31, 2024)
9-70809989-T-G			Uncertain significance (Jul 18, 2022)
9-70809994-C-T			Benign (Nov 03, 2023)
9-70809995-G-A			Uncertain significance (Sep 06, 2022)
9-70810001-T-C			Uncertain significance (Sep 10, 2023)
9-70810008-C-T			Uncertain significance (Dec 19, 2023)
9-70810020-C-T			Uncertain significance (Oct 07, 2022)
9-70810022-T-C			Uncertain significance (Mar 29, 2022)
9-70810026-T-C			Uncertain significance (Jun 23, 2022)
9-70810048-G-A		Familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome	Pathogenic (May 20, 2022)
9-70810059-G-A			Uncertain significance (Jun 30, 2023)
9-70810066-A-G			Uncertain significance (Sep 07, 2022)
9-70810067-T-C			Uncertain significance (Jun 13, 2022)
9-70810078-T-G		MIR204-related disorder • TRPM3-related disorder	Likely benign (Jan 26, 2024)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

• Pathway: Role of Osx and miRNAs in tooth development (Consensus)