ITGAL-AS1

ITGAL antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 16:30498766-30499554

Links

ENSG00000261332HGNC:56737GenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

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

  • Inborn genetic diseases (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ITGAL-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
Total 0 0 1 1 0

Variants in ITGAL-AS1

This is a list of pathogenic ClinVar variants found in the ITGAL-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
16-30499154-A-G not specified Uncertain significance (Jan 24, 2025)3861625
16-30499171-A-C not specified Uncertain significance (Dec 21, 2023)3111346
16-30499195-A-G not specified Likely benign (Sep 07, 2022)2219484
16-30499211-A-C not specified Uncertain significance (Jul 20, 2022)2302656
16-30499341-G-A not specified Likely benign (Feb 11, 2025)3861622

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP