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GeneBe

TAGAP-AS1

TAGAP antisense RNA 1, the group of Antisense RNAs

Basic information

Links

ENSG00000271913NCBI:105378083HGNC:55239GenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

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

  • Primary ciliary dyskinesia 32 (80 variants)
  • not provided (22 variants)
  • Inborn genetic diseases (18 variants)
  • Ciliary dyskinesia (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TAGAP-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
9
clinvar
1
clinvar
57
clinvar
29
clinvar
14
clinvar
110
Total 9 1 58 29 14

Highest pathogenic variant AF is 0.0000657

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP