GeneBe

PCDHGA7

protocadherin gamma subfamily A, 7, the group of Clustered protocadherins

Basic information

Region (hg38): 5:141382739-141512975

Links

ENSG00000253537 ∙ NCBI:56108 ∙ OMIM:606294 ∙ HGNC:8705 ∙ Uniprot:Q9Y5G6 ∙ 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 PCDHGA7 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 PCDHGA7 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
53
clinvar
1
clinvar
 54
nonsense
0
start loss
0
frameshift
0
inframe indel
0
splice donor/acceptor (+/-2bp)
0
splice region
0
non coding
1
clinvar
3
clinvar
524
clinvar
51
clinvar
12
clinvar
 591
Total 1 3 577 56 13

Variants in PCDHGA7

This is a list of pathogenic ClinVar variants found in the PCDHGA7 region.

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

Position Type Phenotype Significance ClinVar
5-141382969-T-C not specified Uncertain significance (Sep 27, 2021)2405075
5-141382997-A-G not specified Uncertain significance (Dec 20, 2023)3209988
5-141383002-G-A not specified Uncertain significance (Jan 16, 2024)3209975
5-141383006-C-T not specified Uncertain significance (Oct 10, 2023)3209976
5-141383030-T-C not specified Uncertain significance (Aug 10, 2023)2603148
5-141383035-G-A not specified Uncertain significance (Mar 14, 2023)2496355
5-141383092-C-T not specified Uncertain significance (May 18, 2022)2233101
5-141383152-G-A not specified Uncertain significance (Apr 25, 2022)2392894
5-141383201-G-T not specified Uncertain significance (Aug 13, 2021)2244773
5-141383203-T-A not specified Uncertain significance (Mar 04, 2024)3209982
5-141383260-G-A not specified Uncertain significance (Jul 29, 2022)2368343
5-141383260-G-T not specified Uncertain significance (Dec 17, 2023)3209983
5-141383270-T-C not specified Uncertain significance (Jul 06, 2021)2391641
5-141383272-G-A not specified Uncertain significance (Dec 01, 2022)2330891
5-141383276-T-G not specified Uncertain significance (Dec 26, 2023)3209984
5-141383286-C-A not specified Uncertain significance (Apr 12, 2024)3304985
5-141383405-G-A not specified Uncertain significance (Sep 16, 2021)2378850
5-141383405-G-T not specified Uncertain significance (Oct 25, 2022)2245444
5-141383423-A-G not specified Uncertain significance (Dec 04, 2023)3209985
5-141383491-C-T not specified Uncertain significance (Jun 17, 2024)3304988
5-141383504-G-C not specified Uncertain significance (Nov 07, 2023)3209986
5-141383518-G-A not specified Likely benign (Oct 06, 2021)2253857
5-141383617-C-T not specified Uncertain significance (Jul 13, 2022)2348299
5-141383772-G-A not specified Likely benign (May 10, 2024)3304981
5-141383837-C-A not specified Uncertain significance (Dec 16, 2023)3209987

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP