GeneBe

MIR4497

microRNA 4497, the group of MicroRNAs

Basic information

Region (hg38): 12:109833348-109833436

Links

ENSG00000263510 ∙ NCBI:100616454 ∙ ∙ HGNC:41737 ∙ ∙ ∙ 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 MIR4497 gene.

  • Autosomal dominant congenital benign spinal muscular atrophy (4 variants)
  • Scapuloperoneal spinal muscular atrophy (4 variants)
  • Metatropic dysplasia (4 variants)
  • Brachyrachia (short spine dysplasia) (3 variants)
  • Spondylometaphyseal dysplasia, Kozlowski type (3 variants)
  • Charcot-Marie-Tooth disease axonal type 2C (3 variants)
  • not specified (1 variants)
  • Brachyolmia (1 variants)
  • Charcot-Marie-Tooth disease type 2 (1 variants)
  • Spondylometaphyseal dysplasia (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MIR4497 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
2
clinvar
 5
Total 0 0 3 2 0

Variants in MIR4497

This is a list of pathogenic ClinVar variants found in the MIR4497 region.

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

Position Type Phenotype Significance ClinVar
12-109833369-C-T not specified Likely benign (Dec 28, 2017)514316
12-109833377-G-A Spondylometaphyseal dysplasia, Kozlowski type • Scapuloperoneal spinal muscular atrophy • Neuronopathy, distal hereditary motor, autosomal dominant 8 • Metatropic dysplasia • Brachyrachia (short spine dysplasia) • Charcot-Marie-Tooth disease axonal type 2C Uncertain significance (Jan 12, 2018)882983
12-109833392-C-T Spondylometaphyseal dysplasia, Kozlowski type • Brachyrachia (short spine dysplasia) • Neuronopathy, distal hereditary motor, autosomal dominant 8 • Charcot-Marie-Tooth disease axonal type 2C • Metatropic dysplasia • Scapuloperoneal spinal muscular atrophy Uncertain significance (Jan 13, 2018)307145
12-109833410-C-A Charcot-Marie-Tooth disease axonal type 2C • Brachyrachia (short spine dysplasia) • Metatropic dysplasia • Neuronopathy, distal hereditary motor, autosomal dominant 8 • Scapuloperoneal spinal muscular atrophy • Spondylometaphyseal dysplasia, Kozlowski type Uncertain significance (Jan 12, 2018)881447
12-109833413-C-T Charcot-Marie-Tooth disease type 2 • Scapuloperoneal spinal muscular atrophy • Neuronopathy, distal hereditary motor, autosomal dominant 8 • Brachyolmia • Spondylometaphyseal dysplasia • Metatropic dysplasia Likely benign (Jun 14, 2016)368980

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP