GeneBe

MIR484

microRNA 484, the group of MicroRNAs

Basic information

Region (hg38): 16:15643294-15643372

Previous symbols: [ "MIRN484" ]

Links

ENSG00000283736 ∙ NCBI:619553 ∙ ∙ HGNC:32341 ∙ ∙ ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the MIR484 gene.

  • Lissencephaly 4 (3 variants)
  • Lissencephaly, Recessive (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MIR484 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
3
clinvar
1
clinvar
 4
Total 0 0 3 1 0

Variants in MIR484

This is a list of pathogenic ClinVar variants found in the MIR484 region.

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

Position Type Phenotype Significance ClinVar
16-15643299-C-T Lissencephaly 4 Uncertain significance (Jan 12, 2018)884574
16-15643320-G-A Lissencephaly 4 Likely benign (Jan 13, 2018)318016
16-15643328-C-T Lissencephaly 4 Uncertain significance (Jan 13, 2018)884575
16-15643346-C-CG Lissencephaly, Recessive Uncertain significance (Jun 14, 2016)318017

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP