DIO3OS

DIO3 opposite strand upstream RNA, the group of Long non-coding RNAs with non-systematic symbols

Basic information

Region (hg38): 14:101552221-101620355

Previous symbols: [ "C14orf134" ]

Links

ENSG00000258498 ∙ NCBI:64150 ∙ OMIM:608523 ∙ HGNC:20348 ∙ ∙ ∙ 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 DIO3OS gene.

• Inborn genetic diseases (13 variants)
• not provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the DIO3OS 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			12	1	1	14
Total	0	0	12	1	1

Variants in DIO3OS

This is a list of pathogenic ClinVar variants found in the DIO3OS region.

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

Position	Type	Phenotype	Significance	ClinVar
14-101561503-C-A		not specified	Likely benign (May 23, 2024)
14-101561515-T-C		not specified	Likely benign (Aug 02, 2022)
14-101561554-G-A		not specified	Uncertain significance (Jul 12, 2022)
14-101561558-C-T		not specified	Uncertain significance (Jan 24, 2024)
14-101561615-C-T		not specified	Uncertain significance (Sep 22, 2022)
14-101561719-C-T		not specified	Uncertain significance (Aug 17, 2022)
14-101561776-C-G		not specified	Uncertain significance (Apr 13, 2022)
14-101561940-C-A		not specified	Uncertain significance (Aug 19, 2023)
14-101561940-C-G		not specified	Uncertain significance (Jan 17, 2023)
14-101562081-C-G		not specified	Uncertain significance (Jul 08, 2022)
14-101562109-G-A		not specified	Uncertain significance (Sep 20, 2023)
14-101562195-G-T		not specified	Uncertain significance (May 18, 2023)
14-101562208-G-A		not specified	Uncertain significance (Nov 15, 2021)
14-101562214-G-A		not specified	Uncertain significance (Aug 22, 2023)
14-101562327-C-T			Benign (Jun 15, 2018)
14-101562394-C-T		not specified	Uncertain significance (Jan 06, 2023)
14-101562395-G-A		not specified	Likely benign (May 14, 2024)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

Mouse Genome Informatics

• Gene name: Dio3os