ASIC4-AS1

ASIC4 antisense RNA 1, the group of Antisense RNAs

Basic information

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 clinvar	11 clinvar	409 clinvar	272 clinvar	61 clinvar	765
Total	12	11	409	272	61

Highest pathogenic variant AF is 0.0000657

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP