ASIC4-AS1

ASIC4 antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 2:219482073-219516877

Links

ENSG00000227432 ∙ NCBI:105373885 ∙ ∙ HGNC:40960 ∙ ∙ ∙ 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 ASIC4-AS1 gene.

• not provided (630 variants)
• Inborn genetic diseases (86 variants)
• Alacrima, achalasia, and intellectual disability syndrome (76 variants)
• not specified (29 variants)
• Myopathy, centronuclear, 5 (29 variants)
• SPEG-related condition (3 variants)
• GMPPA-related condition (2 variants)
• Global developmental delay;Gastroesophageal reflux (1 variants)
• Myopathy, centronuclear, 5;Autosomal dominant centronuclear myopathy (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ASIC4-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	12	11	409	272	61	765
Total	12	11	409	272	61

Highest pathogenic variant AF is 0.0000657

Variants in ASIC4-AS1

This is a list of pathogenic ClinVar variants found in the ASIC4-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
2-219482787-C-G			Uncertain significance (Sep 01, 2022)
2-219482799-G-T		Inborn genetic diseases	Uncertain significance (Aug 30, 2022)
2-219482805-G-A			Uncertain significance (Jun 27, 2022)
2-219482809-G-A		Inborn genetic diseases	Uncertain significance (Sep 21, 2023)
2-219482810-C-T			Uncertain significance (Aug 06, 2022)
2-219482812-C-T			Uncertain significance (Aug 14, 2021)
2-219482813-G-A			Likely benign (Nov 25, 2023)
2-219482813-G-C			Likely benign (Apr 02, 2021)
2-219482816-T-A			Uncertain significance (Aug 02, 2021)
2-219482845-G-T			Uncertain significance (Sep 24, 2021)
2-219482855-A-G			Uncertain significance (May 19, 2021)
2-219482862-G-A			Likely benign (Nov 07, 2021)
2-219482864-A-C			Likely benign (Aug 24, 2023)
2-219482872-C-T			Likely benign (Oct 29, 2023)
2-219483082-A-G			Likely benign (Jan 01, 2023)
2-219483092-C-T			Likely benign (Jun 27, 2022)
2-219483098-C-T			Uncertain significance (Aug 09, 2022)
2-219483106-G-T			Uncertain significance (Apr 17, 2021)
2-219483114-A-G			Uncertain significance (May 25, 2022)
2-219483130-G-A			Likely benign (Jun 27, 2023)
2-219483134-C-T		Inborn genetic diseases	Uncertain significance (Feb 21, 2024)
2-219483135-G-A			Uncertain significance (Jul 07, 2023)
2-219483143-C-A			Uncertain significance (Jul 12, 2022)
2-219483145-C-G			Likely benign (Oct 08, 2022)
2-219483145-C-T		SPEG-related disorder	Benign (Jan 29, 2024)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP