MIR6511B1

microRNA 6511b-1, the group of MicroRNAs

Basic information

Region (hg38): 16:2106669-2106753

Links

ENSG00000284008 ∙ NCBI:102465429 ∙ ∙ HGNC:50228 ∙ ∙ ∙ 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 MIR6511B1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MIR6511B1 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 MIR6511B1

This is a list of pathogenic ClinVar variants found in the MIR6511B1 region.

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

Position	Type	Phenotype	Significance	ClinVar
16-2106671-C-G			Uncertain significance (Feb 06, 2020)
16-2106672-C-A		Polycystic kidney disease, adult type	Likely pathogenic (Feb 05, 2020)
16-2106673-C-A		not specified	Uncertain significance (Feb 22, 2017)
16-2106673-C-T		Polycystic kidney disease, adult type	Pathogenic (Jan 09, 2024)
16-2106674-A-C		PKD1-related disorder	Likely pathogenic (Sep 11, 2023)
16-2106674-A-G		PKD1-related disorder	Uncertain significance (Aug 16, 2022)
16-2106676-C-T		not specified	Uncertain significance (Aug 02, 2024)
16-2106677-G-A		PKD1-related disorder	Uncertain significance (Mar 15, 2023)
16-2106683-G-A		not specified	Uncertain significance (Sep 19, 2016)
16-2106684-G-A		Polycystic kidney disease, adult type	Conflicting classifications of pathogenicity (Oct 15, 2018)
16-2106686-A-T		not specified	Uncertain significance (Jul 15, 2016)
16-2106687-G-A			Likely benign (Jan 09, 2020)
16-2106687-G-T		not specified	Likely benign (-)
16-2106697-T-A		Polycystic kidney disease, adult type	Likely benign (Jan 29, 2020)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP