MIR6848

microRNA 6848, the group of MicroRNAs

Basic information

Region (hg38): 8:144317246-144317315

Links

ENSG00000284229 ∙ NCBI:102465511 ∙ ∙ HGNC:50176 ∙ ∙ ∙ 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 MIR6848 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MIR6848 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 MIR6848

This is a list of pathogenic ClinVar variants found in the MIR6848 region.

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

Position	Type	Phenotype	Significance	ClinVar
8-144317252-C-T			Likely pathogenic (Dec 17, 2022)
8-144317254-T-TG		Congenital diarrhea 7 with exudative enteropathy • DGAT1-related disorder	Conflicting classifications of pathogenicity (Dec 30, 2023)
8-144317256-G-C			Likely benign (Aug 04, 2023)
8-144317257-G-A			Likely benign (Apr 18, 2023)
8-144317259-G-A			Likely benign (Mar 03, 2023)
8-144317262-A-G			Likely benign (Aug 23, 2023)
8-144317264-G-A			Likely benign (Nov 14, 2023)
8-144317268-C-G			Likely benign (Jan 25, 2024)
8-144317271-CA-C			Likely benign (Jan 04, 2024)
8-144317271-CAG-C			Likely benign (Sep 27, 2023)
8-144317305-CCCCCAGGGACA-C			Uncertain significance (Aug 20, 2022)
8-144317315-C-T			Likely benign (Jan 04, 2024)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP