MIR5004

microRNA 5004, the group of MicroRNAs

Basic information

Region (hg38): 6:33438331-33438437

Links

ENSG00000284256 ∙ NCBI:100847012 ∙ ∙ HGNC:43532 ∙ ∙ ∙ 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 MIR5004 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MIR5004 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 MIR5004

This is a list of pathogenic ClinVar variants found in the MIR5004 region.

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

Position	Type	Phenotype	Significance	ClinVar
6-33438351-T-C			Benign (Apr 03, 2020)
6-33438400-G-C		Intellectual disability, autosomal dominant 5	Likely benign (Oct 28, 2023)
6-33438411-G-A		Intellectual disability, autosomal dominant 5 • Inborn genetic diseases	Conflicting classifications of pathogenicity (Oct 13, 2022)
6-33438411-G-T		Intellectual disability, autosomal dominant 5	Likely benign (Dec 09, 2023)
6-33438416-CA-C			Likely pathogenic (Oct 23, 2020)
6-33438422-T-G		Intellectual disability, autosomal dominant 5	Uncertain significance (Jan 15, 2024)
6-33438423-TC-T		Intellectual disability, autosomal dominant 5	Pathogenic (Dec 25, 2023)
6-33438423-T-TC			Likely pathogenic (Jun 01, 2021)
6-33438425-C-G			Uncertain significance (Jan 01, 2021)
6-33438424-C-CCTT		Intellectual disability, autosomal dominant 5	Likely pathogenic (Jun 11, 2020)
6-33438426-T-C		Intellectual disability, autosomal dominant 5	Likely pathogenic (Sep 10, 2020)
6-33438434-A-G		Intellectual disability, autosomal dominant 5	Uncertain significance (Oct 05, 2023)
6-33438435-T-A		Intellectual disability, autosomal dominant 5	Likely pathogenic (Jul 30, 2019)
6-33438435-T-C		Intellectual disability, autosomal dominant 5	Uncertain significance (Oct 10, 2022)
6-33438437-GCCATGTCTGAGGTAGACCGGT-G		Intellectual disability, autosomal dominant 5	Uncertain significance (Dec 04, 2019)
6-33438438-C-A		Intellectual disability, autosomal dominant 5	Uncertain significance (Jun 20, 2019)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP