MIR3936HG

MIR3936 host gene, the group of MicroRNA non-coding host genes

Basic information

Region (hg38): 5:132311285-132370170

Links

ENSG00000233006 ∙ NCBI:553103 ∙ ∙ HGNC:40538 ∙ ∙ ∙ 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 MIR3936HG gene.

• Renal carnitine transport defect (141 variants)
• not provided (91 variants)
• Inborn genetic diseases (15 variants)
• not specified (9 variants)
• Decreased circulating carnitine concentration (7 variants)
• SLC22A4-related condition (4 variants)
• SLC22A5-related condition (2 variants)
• Inflammatory bowel disease 5 (1 variants)
• Axial hypotonia (1 variants)
• SLC22A4 POLYMORPHISM (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MIR3936HG 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)			2			2
splice region						0
non coding	13	26	96	57	32	224
Total	13	26	98	57	32

Highest pathogenic variant AF is 0.0000526

Variants in MIR3936HG

This is a list of pathogenic ClinVar variants found in the MIR3936HG region.

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

Position	Type	Phenotype	Significance	ClinVar
5-132312184-C-T			Likely benign (Oct 17, 2023)
5-132312198-T-C			Uncertain significance (Aug 04, 2023)
5-132312208-C-A			Benign (Apr 21, 2023)
5-132312212-T-C			Uncertain significance (Oct 04, 2023)
5-132312218-G-A			Uncertain significance (Oct 14, 2023)
5-132312223-C-T		SLC22A4-related disorder	Likely benign (Apr 09, 2023)
5-132312232-C-T		not specified • SLC22A4-related disorder	Benign (Jan 24, 2024)
5-132312233-G-A			Uncertain significance (Jul 10, 2023)
5-132312242-G-A			Uncertain significance (Jul 17, 2023)
5-132312263-A-G		not specified	Uncertain significance (Oct 05, 2021)
5-132312264-G-C			Uncertain significance (Nov 30, 2021)
5-132313493-A-G			Benign (May 14, 2021)
5-132313529-G-A			Benign (May 16, 2021)
5-132313594-T-C			Benign (Nov 27, 2023)
5-132313599-T-C			Likely benign (May 29, 2022)
5-132313607-T-C		SLC22A4-related disorder	Benign (Jan 24, 2024)
5-132313630-G-A			Uncertain significance (Jul 29, 2022)
5-132313639-G-A		not specified	Uncertain significance (Dec 19, 2022)
5-132313661-G-A			Uncertain significance (Oct 22, 2023)
5-132313674-G-C			Likely benign (Nov 03, 2022)
5-132313700-T-C		not specified	Uncertain significance (Jul 14, 2021)
5-132313707-T-A			Likely benign (Aug 23, 2022)
5-132313722-C-T			Benign (Dec 25, 2023)
5-132313729-A-G			Uncertain significance (May 10, 2023)
5-132313745-A-G		not specified	Uncertain significance (Nov 07, 2022)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP