GeneBe

FLG-AS1

FLG antisense RNA 1, the group of Antisense RNAs

Basic information

Links

ENSG00000237975 ∙ NCBI:339400 ∙ ∙ HGNC:27913 ∙ ∙ ∙ 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 FLG-AS1 gene.

  • Inborn genetic diseases (593 variants)
  • not provided (579 variants)
  • Ichthyosis vulgaris (140 variants)
  • not specified (38 variants)
  • Dermatitis, atopic, 2 (14 variants)
  • FLG-related disorders (8 variants)
  • Dermatitis, atopic, 2;Ichthyosis vulgaris (7 variants)
  • Ichthyosis vulgaris;Dermatitis, atopic, 2 (7 variants)
  • FLG-related condition (5 variants)
  • Peeling skin syndrome 6 (4 variants)
  • Dermatitis, atopic, 2, susceptibility to (4 variants)
  • Autosomal dominant ichthyosis vulgaris (4 variants)
  • Eczema (2 variants)
  • Epidermolysis bullosa simplex with nail dystrophy (1 variants)
  • Ichthyosis vulgaris;Atopic eczema (1 variants)
  • FLG-Related Disorder (1 variants)
  • See cases (1 variants)
  • Palmoplantar blistering;Palmoplantar hyperhidrosis;Ichthyosis;Atrophic scars (1 variants)
  • 8 conditions (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the FLG-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)
1
clinvar
 1
splice region
0
non coding
119
clinvar
47
clinvar
545
clinvar
341
clinvar
156
clinvar
 1208
Total 119 47 546 341 156

Highest pathogenic variant AF is 0.000487

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP