GeneBe

IGBP1-AS2

IGBP1 antisense RNA 2, the group of Antisense RNAs

Basic information

Region (hg38): X:70148582-70149654

Links

ENSG00000220925 ∙ ∙ ∙ HGNC:40294 ∙ ∙ ∙ 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 IGBP1-AS2 gene.

  • not provided (2 variants)
  • Inborn genetic diseases (2 variants)
  • IGBP1-related condition (1 variants)
  • not specified (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the IGBP1-AS2 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
3
clinvar
2
clinvar
 5
Total 0 0 3 0 2

Variants in IGBP1-AS2

This is a list of pathogenic ClinVar variants found in the IGBP1-AS2 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position Type Phenotype Significance ClinVar
X-70148782-C-T not specified Uncertain significance (Feb 28, 2023)2470994
X-70148797-C-T not specified Uncertain significance (Jul 13, 2021)435495
X-70148800-G-C IGBP1-related disorder Uncertain significance (Sep 19, 2022)2636981
X-70149003-T-C Benign (Nov 12, 2018)1257271
X-70149119-T-G Benign (Nov 12, 2018)1262781

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP