CYCSP38

CYCS pseudogene 38

Basic information

Region (hg38): 15:60558080-60558401

Links

ENSG00000259513 ∙ NCBI:360184 ∙ ∙ HGNC:24411 ∙ ∙ ∙ 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 CYCSP38 gene.

• not provided (4 variants)
• Inborn genetic diseases (3 variants)
• Intellectual developmental disorder with or without epilepsy or cerebellar ataxia (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CYCSP38 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			3	5		8
Total	0	0	3	5	0

Variants in CYCSP38

This is a list of pathogenic ClinVar variants found in the CYCSP38 region.

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

Position	Type	Phenotype	Significance	ClinVar
15-60558230-C-T		Inborn genetic diseases	Likely benign (Feb 01, 2024)
15-60558231-G-A			Likely benign (Jul 31, 2018)
15-60558235-G-C		Inborn genetic diseases	Uncertain significance (Jan 21, 2025)
15-60558252-A-C			Likely benign (Jul 22, 2018)
15-60558253-C-T		Intellectual developmental disorder with or without epilepsy or cerebellar ataxia	Uncertain significance (Jul 30, 2021)
15-60558254-C-A		Inborn genetic diseases	Likely benign (Sep 27, 2021)
15-60558298-A-G		Intellectual developmental disorder with or without epilepsy or cerebellar ataxia	Uncertain significance (Feb 08, 2022)
15-60558298-A-T		RORA-related disorder	Likely benign (May 01, 2024)
15-60558304-T-C			Uncertain significance (Oct 01, 2022)
15-60558309-G-A		Inborn genetic diseases	Uncertain significance (May 09, 2022)
15-60558313-C-T			Likely benign (Nov 01, 2024)
15-60558314-G-C		RORA-related disorder	Uncertain significance (Jul 17, 2024)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP