UBE2R2-AS1

UBE2R2 antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 9:33732970-33818836

Previous symbols: [ "LINC01251" ]

Links

ENSG00000235481 ∙ NCBI:101929688 ∙ ∙ HGNC:49911 ∙ ∙ ∙ 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 UBE2R2-AS1 gene.

• not provided (14 variants)
• Inborn genetic diseases (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the UBE2R2-AS1 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			1	1	13	15
Total	0	0	1	1	13

Variants in UBE2R2-AS1

This is a list of pathogenic ClinVar variants found in the UBE2R2-AS1 region.

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

Position	Type	Phenotype	Significance	ClinVar
9-33750239-C-T			Benign (Jun 14, 2019)
9-33750455-A-ACACAG			Benign (Jun 21, 2019)
9-33750639-C-T			Likely benign (Jun 01, 2022)
9-33750750-G-T			Benign (Jun 14, 2019)
9-33750847-G-C			Benign (Jun 15, 2019)
9-33751017-C-A			Benign (Jun 15, 2019)
9-33794842-G-A			Benign (Aug 15, 2019)
9-33796676-T-C		Thyroiditis	Uncertain significance (-)
9-33796692-TGAG-T			Benign (Aug 15, 2019)
9-33796914-A-G			Benign (Aug 15, 2019)
9-33797058-A-T			Benign (Aug 15, 2019)
9-33797763-G-A			Benign (Aug 15, 2019)
9-33797763-G-T			Benign (Aug 15, 2019)
9-33798019-A-G			Benign (Jan 17, 2024)
9-33798840-T-C			Benign (Aug 15, 2019)
9-33799372-T-C			Benign (Aug 15, 2019)
9-33817792-C-T		not specified	Uncertain significance (Dec 01, 2022)
9-33817854-G-A		not specified	Uncertain significance (Oct 13, 2023)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP