MIR711

microRNA 711, the group of MicroRNAs

Basic information

Region (hg38): 3:48578902-48578977

Links

ENSG00000284251 ∙ NCBI:100313843 ∙ ∙ HGNC:37316 ∙ ∙ ∙ 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 MIR711 gene.

• not provided (12 variants)
• Epidermolysis bullosa dystrophica (4 variants)
• not specified (1 variants)
• Epidermolysis bullosa dystrophica inversa, autosomal recessive (1 variants)
• COL7A1-related disorders (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MIR711 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	1	2	10		16
Total	3	1	2	10	0

Variants in MIR711

This is a list of pathogenic ClinVar variants found in the MIR711 region.

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

Position	Type	Phenotype	Significance	ClinVar
3-48578908-C-G			Likely benign (Apr 24, 2023)
3-48578909-C-G			Likely benign (Aug 28, 2023)
3-48578910-C-T			Likely benign (Oct 05, 2020)
3-48578911-T-A			Likely benign (Jan 02, 2022)
3-48578912-C-A			Likely benign (Jun 09, 2023)
3-48578912-C-T			Likely benign (Feb 11, 2024)
3-48578916-T-C			Uncertain significance (Dec 19, 2024)
3-48578918-C-T			Likely pathogenic (Jun 20, 2024)
3-48578919-G-A		Epidermolysis bullosa dystrophica • COL7A1-related disorder	Likely benign (Jan 06, 2025)
3-48578928-T-G			Likely benign (Jan 10, 2021)
3-48578929-G-A		Epidermolysis bullosa dystrophica	Uncertain significance (Jan 09, 2019)
3-48578930-G-A		not specified	Uncertain significance (Jun 29, 2023)
3-48578934-C-A			Likely benign (Dec 09, 2023)
3-48578934-C-T			Likely benign (Nov 17, 2023)
3-48578936-C-T		Epidermolysis bullosa dystrophica	Pathogenic (Dec 21, 2017)
3-48578940-T-C		Epidermolysis bullosa dystrophica inversa, autosomal recessive	Likely benign (Aug 09, 2018)
3-48578943-G-T			Likely benign (Oct 30, 2024)
3-48578948-CA-C			Pathogenic (Jul 26, 2021)
3-48578953-C-T		Epidermolysis bullosa dystrophica	Pathogenic (Jul 19, 2018)
3-48578954-CCT-C		COL7A1-related disorder	Likely pathogenic (Jun 27, 2023)
3-48578960-G-A			Likely benign (Oct 14, 2024)
3-48578962-G-C			Likely benign (Aug 14, 2023)
3-48578964-G-A			Likely benign (Sep 28, 2024)
3-48578968-CA-C			Likely benign (Jul 22, 2021)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP