MIR6505

microRNA 6505, the group of MicroRNAs

Basic information

Region (hg38): 12:48132797-48132867

Links

ENSG00000275770

∙ NCBI:102466657 ∙ ∙ HGNC:50104 ∙ ∙ ∙ 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 MIR6505 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MIR6505 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 MIR6505

This is a list of pathogenic ClinVar variants found in the MIR6505 region.

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

Position	Phenotype	Significance	ClinVar
12-48132848-G-A	Glycogen storage disease, type VII	Likely benign (Feb 23, 2023)	3019294
12-48132851-T-A	Glycogen storage disease, type VII	Likely benign (Jan 13, 2024)	1540199
12-48132855-A-G	Glycogen storage disease, type VII	Likely benign (Jan 16, 2024)	2887773
12-48132856-C-T	Glycogen storage disease, type VII	Likely benign (Jan 08, 2024)	2729629
12-48132859-C-T	Glycogen storage disease, type VII	Likely benign (Oct 31, 2022)	1589650
12-48132865-A-G	Glycogen storage disease, type VII	Likely pathogenic (Jan 12, 2024)	2434666

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP