GeneBe

MIR130AHG

MIR130A host gene, the group of MicroRNA non-coding host genes

Basic information

Region (hg38): 11:57638024-57652790

Links

ENSG00000254602 ∙ ∙ ∙ HGNC:55966 ∙ ∙ ∙ 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 MIR130AHG gene.

  • Inborn genetic diseases (3 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MIR130AHG 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
 3
Total 0 0 3 0 0

Variants in MIR130AHG

This is a list of pathogenic ClinVar variants found in the MIR130AHG region.

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

Position Type Phenotype Significance ClinVar
11-57646327-C-G not specified Uncertain significance (May 24, 2024)3333721
11-57646349-G-A not specified Uncertain significance (Feb 23, 2023)2468348
11-57646395-C-T not specified Uncertain significance (Feb 22, 2024)3191628
11-57646399-G-C not specified Uncertain significance (Dec 09, 2024)3471804
11-57647011-G-A not specified Uncertain significance (Oct 02, 2023)3191629
11-57647038-G-A not specified Uncertain significance (Aug 22, 2023)2601109
11-57647089-C-T not specified Uncertain significance (Nov 03, 2022)2281367

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP