CYP26C1-DT

CYP26C1 divergent transcript, the group of Divergent transcripts

Basic information

Region (hg38): 10:93059636-93062763

Links

ENSG00000226425 ∙ ∙ ∙ HGNC:55836 ∙ ∙ ∙ 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 CYP26C1-DT gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CYP26C1-DT 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

Variants in CYP26C1-DT

This is a list of pathogenic ClinVar variants found in the CYP26C1-DT region.

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

Position	Type	Phenotype	Significance	ClinVar
10-93061310-G-C			Likely benign (Mar 01, 2018)
10-93061329-G-T			Likely benign (Jan 23, 2018)
10-93061345-C-T			Likely benign (Dec 31, 2019)
10-93061384-C-T		not specified	Uncertain significance (Dec 21, 2022)
10-93061436-T-A		not specified	Uncertain significance (Nov 22, 2023)
10-93061447-A-T		CYP26C1-related disorder	Benign (Jun 13, 2018)
10-93062011-G-A		not specified	Uncertain significance (Aug 02, 2023)
10-93062082-G-C		not specified	Uncertain significance (Apr 01, 2024)
10-93062121-C-G		not specified	Uncertain significance (Mar 20, 2023)
10-93062133-C-T		not specified	Uncertain significance (Aug 08, 2023)
10-93062160-C-G		not specified	Uncertain significance (Apr 01, 2024)
10-93062161-A-C		Optic nerve hypoplasia	Likely benign (-)
10-93062169-C-T		not specified	Uncertain significance (Nov 10, 2022)
10-93062200-G-T		not specified	Uncertain significance (Aug 10, 2021)
10-93062210-C-G			Likely benign (Oct 10, 2018)
10-93062212-A-G		not specified	Uncertain significance (Jun 27, 2024)
10-93062224-G-T		not specified	Uncertain significance (Nov 27, 2023)
10-93062738-AGCCGCGCCGCGCTGGAGCGCTACGT-A			Pathogenic (Jun 28, 2022)
10-93062749-G-T		CYP26C1-related disorder	Likely benign (Apr 10, 2019)
10-93062754-A-C		not specified	Uncertain significance (Oct 29, 2021)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP