GeneBe

PCDHGB4

protocadherin gamma subfamily B, 4, the group of Clustered protocadherins

Basic information

Region (hg38): 5:141387698-141512975

Links

ENSG00000253953 ∙ NCBI:8641 ∙ OMIM:603058 ∙ HGNC:8711 ∙ Uniprot:Q9UN71 ∙ AlphaFold ∙ 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 PCDHGB4 gene.

  • Neurodevelopmental disorder with poor growth and skeletal anomalies (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the PCDHGB4 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
4
clinvar
1
clinvar
 5
missense
60
clinvar
3
clinvar
1
clinvar
 64
nonsense
0
start loss
0
frameshift
0
inframe indel
0
splice donor/acceptor (+/-2bp)
0
splice region
0
non coding
1
clinvar
3
clinvar
468
clinvar
47
clinvar
11
clinvar
 530
Total 1 3 528 54 13

Variants in PCDHGB4

This is a list of pathogenic ClinVar variants found in the PCDHGB4 region.

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

Position Type Phenotype Significance ClinVar
5-141388164-G-A not specified Uncertain significance (Oct 12, 2022)2229237
5-141388210-T-C not specified Uncertain significance (Nov 12, 2021)2260765
5-141388273-C-T not specified Uncertain significance (Jan 23, 2024)3210070
5-141388326-C-A not specified Uncertain significance (Nov 18, 2022)2327936
5-141388603-C-T not specified Uncertain significance (Jan 27, 2022)2361604
5-141388612-G-A not specified Uncertain significance (Oct 26, 2022)3210071
5-141388647-G-A not specified Uncertain significance (Dec 09, 2023)3210072
5-141388651-A-G not specified Uncertain significance (Jan 22, 2024)2218824
5-141388695-G-A not specified Uncertain significance (Mar 20, 2023)2527154
5-141388702-T-G Likely benign (Sep 01, 2022)2655850
5-141388708-C-A not specified Uncertain significance (Mar 16, 2022)2278534
5-141388722-T-C not specified Uncertain significance (Jun 29, 2023)2608129
5-141388828-T-C not specified Uncertain significance (Dec 16, 2023)3210073
5-141388846-A-G not specified Uncertain significance (Mar 29, 2023)2531042
5-141388861-T-C not specified Uncertain significance (Nov 27, 2023)3210075
5-141388875-G-T not specified Uncertain significance (Nov 15, 2021)2342253
5-141388891-T-C not specified Uncertain significance (May 30, 2024)3305029
5-141388927-A-G not specified Uncertain significance (May 04, 2023)2533102
5-141388949-G-A not specified Uncertain significance (Apr 09, 2024)3305030
5-141388951-A-G not specified Uncertain significance (May 30, 2024)3305032
5-141388954-A-G not specified Uncertain significance (Nov 07, 2022)2322868
5-141388966-G-T not specified Uncertain significance (Apr 17, 2023)2509308
5-141388997-C-G not specified Uncertain significance (Jan 26, 2023)2479736
5-141389005-C-T not specified Uncertain significance (Mar 02, 2023)2493633
5-141389106-C-G not specified Uncertain significance (Dec 19, 2023)3210057

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP