GeneBe

PCDHGA9

protocadherin gamma subfamily A, 9, the group of Clustered protocadherins

Basic information

Region (hg38): 5:141402778-141512975

Links

ENSG00000261934 ∙ NCBI:56107 ∙ OMIM:606296 ∙ HGNC:8707 ∙ Uniprot:Q9Y5G4 ∙ 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 PCDHGA9 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 PCDHGA9 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
5
clinvar
1
clinvar
 6
missense
42
clinvar
6
clinvar
 48
nonsense
0
start loss
0
frameshift
0
inframe indel
0
splice donor/acceptor (+/-2bp)
0
splice region
0
non coding
1
clinvar
3
clinvar
326
clinvar
32
clinvar
10
clinvar
 372
Total 1 3 368 43 11

Variants in PCDHGA9

This is a list of pathogenic ClinVar variants found in the PCDHGA9 region.

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

Position Type Phenotype Significance ClinVar
5-141402989-T-A not specified Uncertain significance (Dec 06, 2021)2264991
5-141403000-A-G Likely benign (Nov 01, 2022)2655855
5-141403082-A-C not specified Uncertain significance (Feb 12, 2024)3210008
5-141403122-G-A not specified Uncertain significance (Apr 09, 2024)3305006
5-141403188-C-T not specified Uncertain significance (May 20, 2024)3305007
5-141403190-C-G not specified Uncertain significance (Sep 16, 2021)2366044
5-141403196-G-C not specified Uncertain significance (Jan 31, 2023)2467849
5-141403235-C-T not specified Uncertain significance (Aug 12, 2021)2399911
5-141403267-C-T Likely benign (Jun 01, 2022)2655856
5-141403320-T-A not specified Uncertain significance (Feb 13, 2024)3210020
5-141403353-A-T not specified Uncertain significance (May 03, 2023)2543031
5-141403362-G-A not specified Likely benign (Oct 27, 2022)2410998
5-141403384-A-C not specified Uncertain significance (Jun 03, 2024)2344416
5-141403421-G-A not specified Uncertain significance (Jan 31, 2024)3210023
5-141403569-C-A not specified Uncertain significance (Jul 12, 2022)2410730
5-141403613-C-T not specified Uncertain significance (Mar 28, 2023)2513007
5-141403695-G-T not specified Uncertain significance (Jan 17, 2024)3210024
5-141403700-A-G not specified Uncertain significance (Aug 05, 2023)2616533
5-141403914-C-A not specified Uncertain significance (Apr 26, 2023)2541218
5-141404073-G-A not specified Likely benign (Jul 13, 2021)2236670
5-141404079-C-G not specified Uncertain significance (May 28, 2024)3305003
5-141404117-A-C not specified Uncertain significance (Mar 30, 2024)3305005
5-141404163-T-C not specified Uncertain significance (Sep 20, 2023)3210007
5-141404183-G-A not specified Uncertain significance (Jun 06, 2023)2557131
5-141404273-C-A not specified Uncertain significance (Aug 03, 2022)2305274

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP