GeneBe

PCDHGA4

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

Basic information

Region (hg38): 5:141355021-141512975

Links

ENSG00000262576 ∙ NCBI:56111 ∙ OMIM:606291 ∙ HGNC:8702 ∙ Uniprot:Q9Y5G9 ∙ 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 PCDHGA4 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 PCDHGA4 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
88
clinvar
2
clinvar
1
clinvar
 91
nonsense
0
start loss
0
frameshift
0
inframe indel
0
splice donor/acceptor (+/-2bp)
0
splice region
0
non coding
1
clinvar
4
clinvar
1103
clinvar
85
clinvar
16
clinvar
 1209
Total 1 4 1191 91 18

Variants in PCDHGA4

This is a list of pathogenic ClinVar variants found in the PCDHGA4 region.

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

Position Type Phenotype Significance ClinVar
5-141355207-G-A not specified Uncertain significance (May 08, 2023)2512295
5-141355234-C-G not specified Uncertain significance (Aug 11, 2024)3415420
5-141355240-C-T not specified Uncertain significance (Aug 26, 2024)3415408
5-141355301-C-T not specified Uncertain significance (Oct 29, 2024)3415424
5-141355384-C-G not specified Uncertain significance (Oct 14, 2021)2227801
5-141355399-G-C not specified Uncertain significance (Oct 03, 2023)3209926
5-141355400-T-C not specified Uncertain significance (May 31, 2023)2553705
5-141355402-T-A not specified Uncertain significance (Nov 10, 2024)3415410
5-141355403-C-T not specified Uncertain significance (Feb 27, 2023)2489437
5-141355450-T-G not specified Uncertain significance (Feb 15, 2023)2483995
5-141355454-T-C not specified Uncertain significance (Oct 12, 2022)2318215
5-141355471-G-C not specified Uncertain significance (Aug 02, 2023)2594285
5-141355474-A-T not specified Uncertain significance (May 20, 2024)3304954
5-141355507-G-A not specified Uncertain significance (Dec 10, 2024)3415429
5-141355516-C-T Likely benign (Mar 01, 2022)2655844
5-141355568-T-C not specified Uncertain significance (Jun 24, 2022)2296475
5-141355573-G-T not specified Uncertain significance (Jul 21, 2021)2225917
5-141355595-G-A not specified Likely benign (Nov 25, 2024)3415412
5-141355645-G-A not specified Uncertain significance (Jul 12, 2022)2379966
5-141355648-G-A Benign (Jan 18, 2019)1273895
5-141355679-C-A not specified Uncertain significance (Aug 08, 2023)2617394
5-141355704-G-C not specified Uncertain significance (Nov 18, 2023)3209930
5-141355717-A-G not specified Uncertain significance (Sep 08, 2024)3415421
5-141355831-G-A not specified Uncertain significance (Dec 02, 2022)2332193
5-141355838-C-A not specified Uncertain significance (Mar 29, 2022)2244776

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP