CYCTP

cytochrome c, testis, pseudogene

Basic information

Region (hg38): 2:178092503-178104470

Links

ENSG00000249909

∙ NCBI:360163 ∙ ∙ HGNC:24424 ∙ ∙ ∙ 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 CYCTP gene.

Pigmented nodular adrenocortical disease, primary, 2 (1 variants)
Inborn genetic diseases (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CYCTP 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		1 clinvar	1 clinvar			2
Total	0	1	1	0	0

Highest pathogenic variant AF is 0.00258

Variants in CYCTP

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

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

Position	Phenotype	Significance	ClinVar
2-178104311-T-C	PDE11A-related disorder	Likely benign (Feb 20, 2019)	3058227
2-178104312-G-A	PDE11A-related disorder	Benign (Oct 17, 2019)	3055903
2-178104406-T-A	PDE11A-related disorder	Likely benign (May 31, 2023)	3037485
2-178104441-G-A	not specified	Uncertain significance (Aug 30, 2021)	2247480
2-178104442-GTC-G	Pigmented nodular adrenocortical disease, primary, 2	Conflicting classifications of pathogenicity (Feb 01, 2024)	225432

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

Mouse Genome Informatics

Gene name: Cyct
Phenotype: reproductive system phenotype; cellular phenotype; endocrine/exocrine gland phenotype;