GeneBe

NEXN-AS1

NEXN antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 1:77881348-77889539

Previous symbols: [ "C1orf118" ]

Links

ENSG00000235927 ∙ NCBI:374987 ∙ OMIM:618370 ∙ HGNC:31983 ∙ Uniprot:Q8NBZ9 ∙ AlphaFold ∙ 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 NEXN-AS1 gene.

  • not provided (2 variants)
  • not specified (1 variants)
  • Hypertrophic cardiomyopathy (1 variants)
  • Dilated Cardiomyopathy, Dominant (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the NEXN-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
clinvar
1
clinvar
2
clinvar
 4
Total 0 0 1 1 2

Variants in NEXN-AS1

This is a list of pathogenic ClinVar variants found in the NEXN-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
1-77888598-A-ACGG Dilated Cardiomyopathy, Dominant • Hypertrophic cardiomyopathy Uncertain significance (Jun 14, 2016)298084
1-77888754-T-C not specified Benign (Feb 24, 2014)138513
1-77888795-T-G Likely benign (Jan 07, 2021)1194335
1-77888900-G-T Benign (Jun 23, 2018)1233836

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP