GeneBe

CPVL-AS2

CPVL antisense RNA 2, the group of Antisense RNAs

Basic information

Region (hg38): 7:28955756-29013370

Links

ENSG00000272568 ∙ NCBI:100506497 ∙ ∙ HGNC:56138 ∙ ∙ ∙ 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 CPVL-AS2 gene.

  • not provided (1 variants)

Variants pathogenicity by type

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

Variants in CPVL-AS2

This is a list of pathogenic ClinVar variants found in the CPVL-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
7-28955763-A-T not specified Uncertain significance (Jul 09, 2021)2222468
7-28955795-A-G not specified Uncertain significance (Apr 17, 2023)2537344
7-28955810-C-T not specified Uncertain significance (Jul 16, 2021)2238175
7-28955837-T-C not specified Uncertain significance (Sep 27, 2021)2356812
7-28955840-A-G not specified Uncertain significance (Jun 29, 2023)2600716
7-28955858-C-T not specified Uncertain significance (Dec 08, 2023)3182199
7-28955859-G-A not specified Uncertain significance (Dec 19, 2023)3182198
7-28955868-G-A not specified Uncertain significance (Feb 27, 2023)2490029
7-28955876-C-T not specified Uncertain significance (Dec 28, 2022)2286621
7-28955888-C-G not specified Uncertain significance (Dec 15, 2023)3182197
7-28955894-G-A not specified Uncertain significance (Dec 01, 2022)2330898
7-28955931-T-C not specified Uncertain significance (Jan 03, 2024)3182196
7-28955959-C-G not specified Uncertain significance (Aug 02, 2021)2209344
7-28955963-T-C not specified Uncertain significance (Dec 14, 2023)3182195
7-28955993-G-A not specified Uncertain significance (Aug 11, 2022)2306472
7-28956050-C-T not specified Uncertain significance (Sep 27, 2021)2356811
7-28956083-G-A not specified Uncertain significance (Jun 03, 2022)2293723
7-28956171-G-A not specified Uncertain significance (Oct 25, 2022)2354408
7-28956201-C-G not specified Uncertain significance (Jul 05, 2023)2590494
7-28956285-A-G not specified Uncertain significance (Dec 13, 2023)3182193
7-28956356-G-A not specified Uncertain significance (Feb 28, 2023)2491081
7-28956383-A-C not specified Uncertain significance (Oct 10, 2023)3182192
7-28956386-C-A not specified Uncertain significance (Feb 03, 2022)2403713
7-28956431-G-T not specified Uncertain significance (Mar 21, 2023)2569808
7-28956450-T-C not specified Uncertain significance (Aug 28, 2023)2622089

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP