MIR493HG

MIR493 cluster host gene, the group of MicroRNA non-coding host genes

Basic information

Region (hg38): 14:100836269-100947194

Links

ENSG00000258399 ∙ ∙ ∙ HGNC:55978 ∙ ∙ ∙ 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 MIR493HG gene.

• Inborn genetic diseases (55 variants)
• not provided (32 variants)
• not specified (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MIR493HG 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)				1		1
splice region						0
non coding			51	25	9	85
Total	0	0	51	26	9

Variants in MIR493HG

This is a list of pathogenic ClinVar variants found in the MIR493HG region.

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

Position	Type	Phenotype	Significance	ClinVar
14-100836270-G-A		MEG3-related disorder	Likely benign (Apr 05, 2022)
14-100836282-G-A		MEG3-related disorder	Likely benign (Jul 28, 2023)
14-100845451-G-C		MEG3-related disorder	Benign (Sep 06, 2019)
14-100845906-T-TG		MEG3-related disorder	Benign (Jan 08, 2020)
14-100846076-G-A		MEG3-related disorder	Likely benign (Jul 28, 2022)
14-100846316-C-T		MEG3-related disorder	Likely benign (Nov 11, 2022)
14-100846864-AAG-A		MEG3-related disorder	Likely benign (Jun 27, 2022)
14-100847719-TC-T		MEG3-related disorder	Likely benign (Jul 14, 2022)
14-100848245-G-A		MEG3-related disorder	Likely benign (Jun 27, 2022)
14-100848820-C-T		MEG3-related disorder	Likely benign (Jun 27, 2022)
14-100848826-A-G		MEG3-related disorder	Benign (Sep 19, 2019)
14-100849144-A-C		MEG3-related disorder	Benign (Nov 01, 2019)
14-100849244-A-G		MEG3-related disorder	Likely benign (Mar 19, 2023)
14-100849331-A-G		MEG3-related disorder	Benign (Oct 31, 2019)
14-100849433-A-G			Benign (Aug 01, 2024)
14-100849484-G-A		MEG3-related disorder	Likely benign (Jun 27, 2022)
14-100850047-A-T		MEG3-related disorder	Likely benign (Jun 27, 2022)
14-100850055-C-T		MEG3-related disorder	Likely benign (Jul 31, 2023)
14-100850603-CAAAAAAGA-C		MEG3-related disorder	Likely benign (Apr 05, 2022)
14-100851245-C-T		MEG3-related disorder	Likely benign (Mar 19, 2023)
14-100851322-G-T		MEG3-related disorder	Likely benign (May 27, 2022)
14-100851454-G-A		MEG3-related disorder	Benign (Jul 03, 2019)
14-100851974-C-G		MEG3-related disorder	Benign (Jun 28, 2019)
14-100851987-T-G		MEG3-related disorder	Benign (Dec 05, 2019)
14-100852021-G-A		MEG3-related disorder	Benign (Jan 28, 2020)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP