CDR1

cerebellar degeneration related 1

Basic information

Region (hg38): X:140783578-140784366

Previous symbols: [ "CDR" ]

Links

ENSG00000288642 ∙ NCBI:1038 ∙ OMIM:302650 ∙ HGNC:1798 ∙ Uniprot:P51861 ∙ 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 CDR1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CDR1 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			11	3	1	15
Total	0	0	11	3	1

Variants in CDR1

This is a list of pathogenic ClinVar variants found in the CDR1 region.

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

Position	Type	Phenotype	Significance	ClinVar
X-140783616-T-G		not specified	Uncertain significance (Nov 12, 2024)
X-140783643-T-C		not specified	Uncertain significance (Oct 01, 2024)
X-140783697-G-A			Benign (Jul 07, 2018)
X-140783739-C-T		not specified	Uncertain significance (Jun 22, 2024)
X-140783789-G-A		not specified	Uncertain significance (Aug 14, 2024)
X-140783792-T-G		not specified	Uncertain significance (Dec 22, 2023)
X-140783796-A-G		not specified	Likely benign (Nov 13, 2024)
X-140783976-C-G		not specified	Uncertain significance (Nov 08, 2022)
X-140783982-T-A		not specified	Uncertain significance (Oct 03, 2023)
X-140783988-T-C		not specified	Likely benign (Aug 26, 2022)
X-140784004-C-G		not specified	Uncertain significance (Oct 09, 2024)
X-140784042-G-T		not specified	Uncertain significance (Jul 08, 2022)
X-140784057-C-A		not specified	Uncertain significance (Feb 02, 2022)
X-140784113-A-T		not specified	Uncertain significance (Mar 04, 2024)
X-140784294-CGTCTTCCAACAAAGGTAT-C			Likely benign (Mar 01, 2023)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP