GeneBe

PCDHGA6

protocadherin gamma subfamily A, 6, the group of Clustered protocadherins

Basic information

Region (hg38): 5:141373891-141512975

Links

ENSG00000253731 ∙ NCBI:56109 ∙ OMIM:606293 ∙ HGNC:8704 ∙ Uniprot:Q9Y5G7 ∙ 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 PCDHGA6 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 PCDHGA6 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
55
clinvar
4
clinvar
 59
nonsense
0
start loss
0
frameshift
0
inframe indel
0
splice donor/acceptor (+/-2bp)
0
splice region
0
non coding
1
clinvar
3
clinvar
573
clinvar
53
clinvar
12
clinvar
 642
Total 1 3 628 60 13

Variants in PCDHGA6

This is a list of pathogenic ClinVar variants found in the PCDHGA6 region.

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

Position Type Phenotype Significance ClinVar
5-141374101-G-C not specified Uncertain significance (Apr 07, 2022)2281921
5-141374104-T-G not specified Uncertain significance (May 25, 2022)3209973
5-141374127-T-C not specified Uncertain significance (Jun 07, 2024)3304975
5-141374132-C-A not specified Uncertain significance (May 26, 2022)2291396
5-141374139-T-C not specified Uncertain significance (May 06, 2022)2399204
5-141374145-G-A not specified Uncertain significance (Oct 13, 2023)3209974
5-141374151-T-C not specified Uncertain significance (Jun 16, 2024)3304978
5-141374159-G-T not specified Uncertain significance (Jun 18, 2024)3304966
5-141374262-C-A not specified Uncertain significance (Dec 03, 2021)2264268
5-141374360-G-A not specified Uncertain significance (Aug 30, 2022)2372225
5-141374375-C-A not specified Uncertain significance (Jan 03, 2022)2268972
5-141374490-A-G not specified Uncertain significance (Feb 15, 2023)2484773
5-141374534-C-G not specified Uncertain significance (Sep 17, 2021)2356445
5-141374547-T-C not specified Likely benign (Oct 06, 2021)2253983
5-141374559-A-C not specified Uncertain significance (Sep 14, 2023)2596410
5-141374601-G-C not specified Uncertain significance (Aug 04, 2023)2616186
5-141374694-G-T not specified Uncertain significance (Jun 17, 2024)3304979
5-141374771-G-A not specified Uncertain significance (Aug 11, 2022)2228105
5-141374930-A-G not specified Uncertain significance (May 01, 2024)3304971
5-141374942-A-G not specified Uncertain significance (Jun 11, 2024)3304973
5-141374968-T-G not specified Uncertain significance (Feb 28, 2023)2462777
5-141374978-G-C not specified Uncertain significance (Aug 12, 2022)2306801
5-141375003-T-C not specified Uncertain significance (Aug 10, 2023)2617796
5-141375200-G-T not specified Uncertain significance (May 13, 2024)3304972
5-141375258-T-C not specified Uncertain significance (Jun 10, 2024)3304976

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP