ANXA2R-OT1

ANXA2R overlapping transcript 1, the group of Overlapping transcripts

Basic information

Region (hg38): 5:42918237-43067492

Links

ENSG00000177738 ∙ NCBI:648987 ∙ ∙ HGNC:48996 ∙ ∙ ∙ 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 ANXA2R-OT1 gene.

• Inborn genetic diseases (8 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ANXA2R-OT1 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			8			8
Total	0	0	8	0	0

Variants in ANXA2R-OT1

This is a list of pathogenic ClinVar variants found in the ANXA2R-OT1 region.

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

Position	Type	Phenotype	Significance	ClinVar
5-43039550-A-G		not specified	Uncertain significance (Dec 21, 2022)
5-43039551-G-C		not specified	Uncertain significance (Nov 17, 2023)
5-43039596-G-A		not specified	Uncertain significance (Apr 20, 2023)
5-43039598-G-A		not specified	Uncertain significance (Jan 26, 2022)
5-43039614-A-C		not specified	Uncertain significance (Feb 28, 2024)
5-43039629-C-T		not specified	Uncertain significance (Dec 17, 2023)
5-43039634-A-C		not specified	Uncertain significance (Jul 12, 2022)
5-43039656-C-T		not specified	Uncertain significance (May 05, 2023)
5-43039674-T-C		not specified	Uncertain significance (Feb 05, 2024)
5-43039703-C-G		not specified	Uncertain significance (Jun 17, 2022)
5-43039718-G-A		not specified	Uncertain significance (May 14, 2024)
5-43039871-C-T		not specified	Uncertain significance (Dec 08, 2023)
5-43039980-G-C		not specified	Uncertain significance (Jan 17, 2023)
5-43040012-G-T		not specified	Uncertain significance (Jan 03, 2024)
5-43040013-C-T		not specified	Uncertain significance (Jul 30, 2023)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP