GeneBe

PCDHGA1

protocadherin gamma subfamily A, 1, the group of Clustered protocadherins

Basic information

Region (hg38): 5:141330514-141512975

Links

ENSG00000204956 ∙ NCBI:56114 ∙ OMIM:606288 ∙ HGNC:8696 ∙ Uniprot:Q9Y5H4 ∙ 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 PCDHGA1 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 PCDHGA1 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
3
clinvar
1
clinvar
 4
missense
52
clinvar
4
clinvar
 56
nonsense
0
start loss
0
frameshift
0
inframe indel
0
splice donor/acceptor (+/-2bp)
0
splice region
0
non coding
1
clinvar
3
clinvar
981
clinvar
83
clinvar
16
clinvar
 1084
Total 1 3 1033 90 17

Variants in PCDHGA1

This is a list of pathogenic ClinVar variants found in the PCDHGA1 region.

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

Position Type Phenotype Significance ClinVar
5-141330778-C-A not specified Uncertain significance (Dec 14, 2021)2267425
5-141330865-G-C not specified Uncertain significance (Sep 25, 2023)3209835
5-141330874-G-A not specified Uncertain significance (Mar 25, 2024)3304915
5-141330954-A-G not specified Uncertain significance (Aug 01, 2022)2304344
5-141330982-A-G not specified Uncertain significance (Feb 28, 2024)3209842
5-141331012-G-T not specified Uncertain significance (Nov 22, 2021)2383775
5-141331019-A-T not specified Uncertain significance (Aug 04, 2023)2615898
5-141331021-A-G not specified Uncertain significance (Mar 04, 2024)3209843
5-141331191-C-G not specified Uncertain significance (May 03, 2023)2542450
5-141331196-A-T not specified Uncertain significance (Nov 08, 2022)2214304
5-141331255-C-T not specified Uncertain significance (Oct 14, 2021)2255451
5-141331258-C-T not specified Uncertain significance (Jul 20, 2021)2375407
5-141331282-T-G not specified Uncertain significance (Jun 12, 2023)2559519
5-141331322-C-T not specified Uncertain significance (Jul 13, 2022)2298094
5-141331348-C-T not specified Uncertain significance (Jun 22, 2024)3304917
5-141331349-G-A not specified Uncertain significance (Aug 13, 2021)2359182
5-141331372-A-G not specified Likely benign (Apr 14, 2022)2341083
5-141331377-G-C not specified Uncertain significance (Dec 12, 2023)3209844
5-141331379-T-C not specified Uncertain significance (Apr 20, 2023)2521786
5-141331540-C-G not specified Uncertain significance (Jan 29, 2024)3209845
5-141331541-A-T not specified Uncertain significance (Sep 14, 2023)2590180
5-141331554-A-C not specified Uncertain significance (Nov 12, 2021)2405894
5-141331639-G-C not specified Uncertain significance (Dec 06, 2023)3209846
5-141331652-A-G not specified Uncertain significance (Feb 01, 2023)2480491
5-141331658-C-T not specified Uncertain significance (Sep 22, 2023)3209847

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP