PCDHGA1

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

Basic information

Links

∙ 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.

Inborn genetic diseases (796 variants)
not provided (50 variants)
Neurodevelopmental disorder with poor growth and skeletal anomalies (2 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			32 clinvar	3 clinvar		35
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region ? Intron variants in splice region, excluding donor/acceptor (+/-2bp)						0
non coding ? UTR, intron and other, non coding variants		2 clinvar	718 clinvar	73 clinvar	16 clinvar	809
Total	0	2	750	79	17

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP