MIR1225

microRNA 1225, the group of MicroRNAs

Basic information

Region (hg38): 16:2090195-2090284

Previous symbols: [ "MIRN1225" ]

Links

ENSG00000221656 ∙ NCBI:100188847 ∙ OMIM:611621 ∙ HGNC:33931 ∙ ∙ ∙ 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 MIR1225 gene.

• Polycystic kidney disease, adult type (2 variants)
• not provided (2 variants)
• Polycystic kidney dysplasia (2 variants)
• not specified (1 variants)
• Autosomal dominant polycystic kidney disease (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MIR1225 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)	1	1	1			3
splice region						0
non coding	1			1	1	3
Total	2	1	1	1	1

Variants in MIR1225

This is a list of pathogenic ClinVar variants found in the MIR1225 region.

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

Position	Type	Phenotype	Significance	ClinVar
16-2090196-T-A			Likely pathogenic (Sep 16, 2018)
16-2090196-T-G		Polycystic kidney disease	Pathogenic (-)
16-2090196-TGGGGGCGGCACAGGG-T		Polycystic kidney disease, adult type	Uncertain significance (Jul 17, 2023)
16-2090212-G-A		PKD1-related disorder	Likely benign (Aug 14, 2023)
16-2090224-C-T		PKD1-related disorder	Likely benign (Feb 07, 2023)
16-2090261-T-TC		Autosomal dominant polycystic kidney disease	Benign (Apr 01, 2022)
16-2090270-C-G		not specified	Likely benign (-)
16-2090284-C-T		Polycystic kidney disease, adult type • Polycystic kidney disease	Pathogenic (Mar 22, 2019)
16-2090285-C-G			Likely pathogenic (Sep 16, 2018)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP