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GeneBe

COL4A2-AS2

COL4A2 antisense RNA 2, the group of Antisense RNAs

Basic information

Links

ENSG00000224821NCBI:100129836HGNC:39849GenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the COL4A2-AS2 gene.

  • not provided (103 variants)
  • Porencephaly 2 (20 variants)
  • Inborn genetic diseases (10 variants)
  • COL4A2-related condition (7 variants)
  • not specified (5 variants)
  • Vasculitis (1 variants)
  • Intracerebral hemorrhage (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the COL4A2-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)
1
clinvar
1
splice region
0
non coding
4
clinvar
2
clinvar
44
clinvar
43
clinvar
31
clinvar
124
Total 4 2 45 43 31

Highest pathogenic variant AF is 0.0000197

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

Haploinsufficiency Scores

pHI
hipred
hipred_score
ghis
0.405

Essentials

essential_gene_CRISPR
essential_gene_CRISPR2
essential_gene_gene_trap
gene_indispensability_pred
N
gene_indispensability_score
0.114