MIR6758

microRNA 6758, the group of MicroRNAs

Basic information

Region (hg38): 12:57512688-57512750

Links

ENSG00000284152 ∙ NCBI:102465454 ∙ ∙ HGNC:50038 ∙ ∙ ∙ 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 MIR6758 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MIR6758 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 MIR6758

This is a list of pathogenic ClinVar variants found in the MIR6758 region.

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

Position	Type	Phenotype	Significance	ClinVar
12-57512734-C-G		Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency;Charcot-Marie-Tooth disease axonal type 2U	Likely benign (Sep 29, 2023)
12-57512736-T-C		Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency;Charcot-Marie-Tooth disease axonal type 2U	Likely benign (Dec 14, 2023)
12-57512740-C-T		Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency;Charcot-Marie-Tooth disease axonal type 2U	Likely benign (Nov 02, 2023)
12-57512745-G-A		Charcot-Marie-Tooth disease axonal type 2U;Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency	Likely benign (Jul 16, 2023)
12-57512747-C-A		Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency;Charcot-Marie-Tooth disease axonal type 2U • not specified • MARS1-related disorder	Likely benign (Jan 20, 2024)
12-57512750-G-A		Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency;Charcot-Marie-Tooth disease axonal type 2U	Uncertain significance (Mar 17, 2021)
12-57512750-G-C		Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency;Charcot-Marie-Tooth disease axonal type 2U	Uncertain significance (Dec 10, 2018)
12-57512751-A-C		Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency;Charcot-Marie-Tooth disease axonal type 2U	Uncertain significance (Dec 19, 2023)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP