MIR140

microRNA 140, the group of MicroRNAs

Basic information

Region (hg38): 16:69933081-69933180

Previous symbols: [ "MIRN140" ]

Links

ENSG00000208017

∙ NCBI:406932 ∙ OMIM:611894 ∙ HGNC:31527 ∙ ∙ ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

spondyloepiphyseal dysplasia, nishimura type (Strong), mode of inheritance: AD

Clinical Genomic Database

Source: CGD

Condition	Inheritance	Intervention Categories	Intervention/Rationale	Manifestation Categories	References
Spondyloepiphyseal dysplasia, Nishimura type	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	Craniofacial; Musculoskeletal; Pulmonary	30804514

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the MIR140 gene.

Spondyloepiphyseal dysplasia, nishimura type (1 variants)
Spondyloepiphyseal dysplasia MIR140 type Nishimura (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MIR140 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 clinvar					1
Total	1	0	0	0	0

Variants in MIR140

This is a list of pathogenic ClinVar variants found in the MIR140 region.

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

Position	Type	Phenotype	Significance	ClinVar
16-69933104-A-G		Spondyloepiphyseal dysplasia MIR140 type Nishimura • Spondyloepiphyseal dysplasia, nishimura type	Pathogenic (Oct 09, 2019)	599186

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

Pathway: MicroRNAs in cardiomyocyte hypertrophy;miR-targeted genes in epithelium - TarBase;miR-targeted genes in lymphocytes - TarBase;miR-targeted genes in muscle cell - TarBase (Consensus)