Menu
GeneBe

FLNC-AS1

FLNC antisense RNA 1, the group of Antisense RNAs

Basic information

Links

ENSG00000242902 ∙ ∙ ∙ HGNC:53474 ∙ ∙ ∙ 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 FLNC-AS1 gene.

  • Cardiovascular phenotype (447 variants)
  • not provided (361 variants)
  • Distal myopathy with posterior leg and anterior hand involvement;Hypertrophic cardiomyopathy 26;Dilated Cardiomyopathy, Dominant;Myofibrillar myopathy 5 (207 variants)
  • Myofibrillar myopathy 5;Hypertrophic cardiomyopathy 26;Dilated Cardiomyopathy, Dominant;Distal myopathy with posterior leg and anterior hand involvement (120 variants)
  • Dilated Cardiomyopathy, Dominant;Myofibrillar myopathy 5;Hypertrophic cardiomyopathy 26;Distal myopathy with posterior leg and anterior hand involvement (118 variants)
  • Dilated Cardiomyopathy, Dominant;Distal myopathy with posterior leg and anterior hand involvement;Myofibrillar myopathy 5;Hypertrophic cardiomyopathy 26 (104 variants)
  • Myofibrillar myopathy 5;Distal myopathy with posterior leg and anterior hand involvement;Hypertrophic cardiomyopathy 26;Dilated Cardiomyopathy, Dominant (99 variants)
  • Hypertrophic cardiomyopathy 26;Distal myopathy with posterior leg and anterior hand involvement;Dilated Cardiomyopathy, Dominant;Myofibrillar myopathy 5 (72 variants)
  • not specified (66 variants)
  • Dilated Cardiomyopathy, Dominant;Myofibrillar myopathy 5;Distal myopathy with posterior leg and anterior hand involvement;Hypertrophic cardiomyopathy 26 (51 variants)
  • Myofibrillar myopathy 5;Distal myopathy with posterior leg and anterior hand involvement;Dilated Cardiomyopathy, Dominant;Hypertrophic cardiomyopathy 26 (45 variants)
  • Myofibrillar myopathy 5;Dilated Cardiomyopathy, Dominant;Distal myopathy with posterior leg and anterior hand involvement;Hypertrophic cardiomyopathy 26 (36 variants)
  • Distal myopathy with posterior leg and anterior hand involvement;Myofibrillar myopathy 5;Hypertrophic cardiomyopathy 26;Dilated Cardiomyopathy, Dominant (35 variants)
  • Myofibrillar myopathy 5;Dilated Cardiomyopathy, Dominant;Hypertrophic cardiomyopathy 26;Distal myopathy with posterior leg and anterior hand involvement (32 variants)
  • Hypertrophic cardiomyopathy 26 (31 variants)
  • Hypertrophic cardiomyopathy 26;Myofibrillar myopathy 5;Distal myopathy with posterior leg and anterior hand involvement;Dilated Cardiomyopathy, Dominant (29 variants)
  • Dilated Cardiomyopathy, Dominant;Distal myopathy with posterior leg and anterior hand involvement;Hypertrophic cardiomyopathy 26;Myofibrillar myopathy 5 (28 variants)
  • Distal myopathy with posterior leg and anterior hand involvement;Hypertrophic cardiomyopathy 26;Myofibrillar myopathy 5;Dilated Cardiomyopathy, Dominant (28 variants)
  • Dilated Cardiomyopathy, Dominant;Hypertrophic cardiomyopathy 26;Myofibrillar myopathy 5;Distal myopathy with posterior leg and anterior hand involvement (25 variants)
  • Distal myopathy with posterior leg and anterior hand involvement;Dilated Cardiomyopathy, Dominant;Hypertrophic cardiomyopathy 26;Myofibrillar myopathy 5 (25 variants)
  • Distal myopathy with posterior leg and anterior hand involvement;Dilated Cardiomyopathy, Dominant;Myofibrillar myopathy 5;Hypertrophic cardiomyopathy 26 (21 variants)
  • Cardiomyopathy (20 variants)
  • Myofibrillar myopathy 5;Hypertrophic cardiomyopathy 26;Distal myopathy with posterior leg and anterior hand involvement;Dilated Cardiomyopathy, Dominant (19 variants)
  • Hypertrophic cardiomyopathy 26;Dilated Cardiomyopathy, Dominant;Myofibrillar myopathy 5;Distal myopathy with posterior leg and anterior hand involvement (19 variants)
  • Hypertrophic cardiomyopathy 26;Dilated Cardiomyopathy, Dominant;Distal myopathy with posterior leg and anterior hand involvement;Myofibrillar myopathy 5 (17 variants)
  • Hypertrophic cardiomyopathy 26;Myofibrillar myopathy 5;Dilated Cardiomyopathy, Dominant;Distal myopathy with posterior leg and anterior hand involvement (15 variants)
  • Myofibrillar myopathy 5;Hypertrophic cardiomyopathy 26;Distal myopathy with posterior leg and anterior hand involvement (14 variants)
  • Inborn genetic diseases (13 variants)
  • Dilated Cardiomyopathy, Dominant;Hypertrophic cardiomyopathy 26;Distal myopathy with posterior leg and anterior hand involvement;Myofibrillar myopathy 5 (12 variants)
  • Myofibrillar myopathy 5 (11 variants)
  • FLNC-related condition (11 variants)
  • Hypertrophic cardiomyopathy 26;Distal myopathy with posterior leg and anterior hand involvement;Myofibrillar myopathy 5;Dilated Cardiomyopathy, Dominant (9 variants)
  • Distal myopathy with posterior leg and anterior hand involvement;Myofibrillar myopathy 5;Dilated Cardiomyopathy, Dominant;Hypertrophic cardiomyopathy 26 (9 variants)
  • Distal myopathy with posterior leg and anterior hand involvement (8 variants)
  • Myofibrillar myopathy 5;Distal myopathy with posterior leg and anterior hand involvement;Hypertrophic cardiomyopathy 26 (8 variants)
  • Distal myopathy with posterior leg and anterior hand involvement;Hypertrophic cardiomyopathy 26;Myofibrillar myopathy 5 (7 variants)
  • Primary familial dilated cardiomyopathy (7 variants)
  • Primary dilated cardiomyopathy (5 variants)
  • Distal myopathy with posterior leg and anterior hand involvement;Myofibrillar myopathy 5;Hypertrophic cardiomyopathy 26 (5 variants)
  • Hypertrophic cardiomyopathy 26;Distal myopathy with posterior leg and anterior hand involvement;Myofibrillar myopathy 5 (4 variants)
  • Hypertrophic cardiomyopathy (4 variants)
  • Restrictive cardiomyopathy (4 variants)
  • Hypertrophic cardiomyopathy 26;Myofibrillar myopathy 5;Distal myopathy with posterior leg and anterior hand involvement (4 variants)
  • Arrhythmogenic right ventricular dysplasia, familial, 15 (2 variants)
  • 7 conditions (1 variants)
  • Myofibrillar myopathy (1 variants)
  • See cases (1 variants)
  • Distal myopathy with posterior leg and anterior hand involvement;Myofibrillar myopathy 5 (1 variants)
  • Primary familial hypertrophic cardiomyopathy (1 variants)
  • Wolff-Parkinson-White pattern (1 variants)
  • Cardiomyopathy, familial restrictive, 5 (1 variants)
  • Asymmetric septal hypertrophy (1 variants)
  • Spastic ataxia;Cerebellar ataxia (1 variants)
  • Conduction disorder of the heart (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the FLNC-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)
4
clinvar
2
clinvar
 6
splice region
?
    Intron variants in splice region, excluding donor/acceptor (+/-2bp)
 0
non coding
?
    UTR, intron and other, non coding variants
87
clinvar
47
clinvar
649
clinvar
583
clinvar
64
clinvar
 1430
Total 87 47 653 585 64

Highest pathogenic variant AF is 0.00000661

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP