GeneBe

MIR4321

microRNA 4321, the group of MicroRNAs

Basic information

Region (hg38): 19:2250639-2250718

Links

ENSG00000284272 ∙ NCBI:100423031 ∙ ∙ HGNC:38244 ∙ ∙ ∙ 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 MIR4321 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MIR4321 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
0
Total 0 0 0 0 0

Variants in MIR4321

This is a list of pathogenic ClinVar variants found in the MIR4321 region.

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

Position Type Phenotype Significance ClinVar
19-2250659-G-A Persistent Mullerian duct syndrome Pathogenic (-)987678
19-2250667-C-T Persistent mullerian duct syndrome, type I Pathogenic (Dec 01, 1992)8624
19-2250671-A-G Inborn genetic diseases Uncertain significance (Apr 20, 2023)2193494
19-2250676-C-T Uncertain significance (Oct 08, 2021)1480849
19-2250700-C-T Uncertain significance (Aug 28, 2021)1355108
19-2250703-C-T Inborn genetic diseases Uncertain significance (Dec 28, 2022)2394380
19-2250712-G-C Uncertain significance (Oct 28, 2016)390467
19-2250713-C-T Inborn genetic diseases Uncertain significance (Jun 07, 2024)3292826

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP