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GeneBe

CARD11-AS1

CARD11 antisense RNA 1, the group of Antisense RNAs

Basic information

Links

ENSG00000237286NCBI:101927256HGNC:40766GenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the CARD11-AS1 gene.

  • BENTA disease;Severe combined immunodeficiency due to CARD11 deficiency (32 variants)
  • Severe combined immunodeficiency due to CARD11 deficiency;BENTA disease (23 variants)
  • not provided (13 variants)
  • BENTA disease (6 variants)
  • not specified (4 variants)
  • Immunodeficiency 11b with atopic dermatitis (4 variants)
  • Inborn genetic diseases (2 variants)
  • BENTA disease;Immunodeficiency 11b with atopic dermatitis;Severe combined immunodeficiency due to CARD11 deficiency (1 variants)
  • Osteopenia;Asthma;Splenomegaly (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CARD11-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)
2
clinvar
2
splice region
0
non coding
6
clinvar
3
clinvar
32
clinvar
26
clinvar
2
clinvar
69
Total 6 3 34 26 2

Highest pathogenic variant AF is 0.00000657

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP