GeneBe

PCDHB1-AS1

PCDHB1 antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 5:140990202-141096402

Links

ENSG00000279047 ∙ NCBI:101926905 ∙ ∙ HGNC:56111 ∙ ∙ ∙ 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 PCDHB1-AS1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the PCDHB1-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
20
clinvar
1
clinvar
1
clinvar
 22
Total 0 0 20 1 1

Variants in PCDHB1-AS1

This is a list of pathogenic ClinVar variants found in the PCDHB1-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
5-141009616-TTG-T PCDHA13-related disorder Likely benign (Jun 07, 2019)3044804
5-141009697-C-T Likely benign (Sep 01, 2017)708061
5-141009754-C-A Likely benign (Jul 26, 2018)710264
5-141009886-C-T PCDHA13-related disorder Benign (Jun 07, 2019)3044886
5-141051484-G-A not specified Uncertain significance (Mar 08, 2025)3886418
5-141051510-G-A not specified Uncertain significance (Feb 25, 2025)3886413
5-141051525-A-T not specified Uncertain significance (Jul 27, 2024)2341379
5-141051529-T-C not specified Uncertain significance (May 03, 2023)2542449
5-141051562-T-A not specified Uncertain significance (Dec 28, 2023)3209550
5-141051586-T-C not specified Uncertain significance (May 11, 2022)3209538
5-141051595-G-C not specified Uncertain significance (Feb 26, 2024)3209540
5-141051685-A-G not specified Uncertain significance (Apr 07, 2023)2566339
5-141051733-A-C not specified Uncertain significance (Sep 13, 2023)2623097
5-141051738-C-G not specified Uncertain significance (Dec 24, 2024)3886407
5-141051771-C-T not specified Uncertain significance (Jun 24, 2022)2338935
5-141051780-C-A not specified Uncertain significance (Feb 26, 2025)3886415
5-141051823-G-A not specified Uncertain significance (Nov 11, 2024)3415057
5-141051843-G-T not specified Uncertain significance (Feb 12, 2025)3209549
5-141051852-G-T not specified Uncertain significance (Aug 14, 2023)2618020
5-141051877-A-G not specified Uncertain significance (Mar 29, 2024)3304778
5-141051881-G-T not specified Uncertain significance (Aug 12, 2021)2261523
5-141052011-C-T not specified Uncertain significance (Jun 30, 2022)2299447
5-141052044-G-T not specified Uncertain significance (Feb 07, 2025)3886410
5-141052184-C-A not specified Uncertain significance (Sep 29, 2022)2314742
5-141052240-A-G not specified Uncertain significance (Jul 27, 2024)3415050

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP