GeneBe

PCDHGB3

protocadherin gamma subfamily B, 3, the group of Clustered protocadherins

Basic information

Region (hg38): 5:141370242-141512975

Links

ENSG00000262209 ∙ NCBI:56102 ∙ OMIM:606301 ∙ HGNC:8710 ∙ Uniprot:Q9Y5G1 ∙ 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 PCDHGB3 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 PCDHGB3 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
49
clinvar
2
clinvar
 51
nonsense
0
start loss
0
frameshift
0
inframe indel
0
splice donor/acceptor (+/-2bp)
0
splice region
0
non coding
1
clinvar
3
clinvar
624
clinvar
57
clinvar
12
clinvar
 697
Total 1 3 673 63 13

Variants in PCDHGB3

This is a list of pathogenic ClinVar variants found in the PCDHGB3 region.

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

Position Type Phenotype Significance ClinVar
5-141370426-C-T not specified Uncertain significance (Feb 17, 2023)2486767
5-141370441-T-C not specified Uncertain significance (Nov 14, 2023)3210052
5-141370514-G-T not specified Uncertain significance (May 05, 2023)2544773
5-141370644-T-A not specified Uncertain significance (Sep 12, 2023)2622300
5-141370660-G-T not specified Uncertain significance (May 27, 2022)2388541
5-141370669-G-T not specified Uncertain significance (Dec 21, 2022)2338008
5-141370693-C-G not specified Uncertain significance (Jul 19, 2023)2593656
5-141370705-T-C not specified Uncertain significance (Jan 27, 2022)2274408
5-141370732-C-T not specified Uncertain significance (Apr 01, 2024)3305025
5-141370804-T-C not specified Uncertain significance (May 18, 2022)2372350
5-141370930-C-T not specified Likely benign (Nov 10, 2022)2226611
5-141370973-G-T not specified Uncertain significance (Oct 16, 2023)3210053
5-141371070-A-G not specified Uncertain significance (Feb 28, 2024)3210054
5-141371145-G-A not specified Uncertain significance (Jun 17, 2024)3305022
5-141371209-G-A not specified Uncertain significance (Mar 27, 2023)2512994
5-141371244-A-T not specified Uncertain significance (Jan 23, 2023)2477302
5-141371262-C-G not specified Uncertain significance (Mar 06, 2023)2458542
5-141371314-T-G not specified Uncertain significance (Feb 13, 2024)3210055
5-141371356-C-T not specified Uncertain significance (Dec 21, 2023)3210056
5-141371400-G-C not specified Uncertain significance (Mar 31, 2023)2509287
5-141371427-C-G not specified Uncertain significance (Nov 30, 2021)2410605
5-141371529-A-G not specified Uncertain significance (Jan 26, 2023)2454930
5-141371593-A-C not specified Uncertain significance (May 08, 2023)2545218
5-141371620-C-A not specified Uncertain significance (Jan 03, 2024)3210045
5-141371734-A-G not specified Uncertain significance (Sep 16, 2021)2250709

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP