CLCA3P

chloride channel accessory 3, pseudogene, the group of Chloride channel accessory

Basic information

Region (hg38): 1:86634276-86654745

Previous symbols: [ "CLCA3" ]

Links

ENSG00000153923NCBI:9629OMIM:604337HGNC:2017Uniprot:Q9Y6N3AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the CLCA3P gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CLCA3P 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
0
missense
0
nonsense
0
start loss
0
frameshift
0
inframe indel
0
splice donor/acceptor (+/-2bp)
0
splice region
0
non coding
0
Total 0 0 0 0 0

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

Pathway
Stimuli-sensing channels;Ion channel transport;Transport of small molecules (Consensus)

Haploinsufficiency Scores

pHI
0.0937
hipred
hipred_score
ghis

Gene ontology

Biological process
proteolysis;ion transmembrane transport;regulation of ion transmembrane transport;calcium ion transmembrane transport;chloride transmembrane transport
Cellular component
extracellular space;plasma membrane;chloride channel complex
Molecular function
metalloendopeptidase activity;transporter activity;voltage-gated ion channel activity;chloride channel activity;calcium channel activity