CCDC187

coiled-coil domain containing 187

Basic information

Region (hg38): 9:136249973-136306901

Links

ENSG00000260220

∙ NCBI:399693 ∙ ∙ HGNC:30942 ∙ Uniprot:A0A096LP49 ∙ 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 CCDC187 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CCDC187 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				3 clinvar		3
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	3	0

Variants in CCDC187

This is a list of pathogenic ClinVar variants found in the CCDC187 region.

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

Position	Significance	ClinVar
9-136253773-G-A	Likely benign (Jul 01, 2022)	2659728
9-136254439-C-T	Likely benign (Jul 01, 2022)	2659729
9-136255011-G-C	Likely benign (Apr 01, 2023)	2659730

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

Haploinsufficiency Scores

pHI
hipred
hipred_score
ghis: 0.419

Mouse Genome Informatics

Gene name: Ccdc187
Phenotype

Gene ontology

Biological process: microtubule anchoring
Cellular component: centrosome
Molecular function: microtubule binding