CSE1L-DT

CSE1L divergent transcript, the group of Divergent transcripts

Basic information

Region (hg38): 20:49017207-49046185

Previous symbols: [ "CSE1L-AS1" ]

Links

ENSG00000227431 ∙ NCBI:102723483 ∙ ∙ HGNC:51232 ∙ ∙ ∙ 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 CSE1L-DT gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CSE1L-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 CSE1L-DT

This is a list of pathogenic ClinVar variants found in the CSE1L-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
20-49017237-T-C		Periventricular heterotopia with microcephaly, autosomal recessive	Uncertain significance (Jan 01, 2024)
20-49017238-T-G			Likely benign (Nov 08, 2022)
20-49017240-A-C			Likely benign (Feb 25, 2018)
20-49017253-T-C		not specified	Likely benign (Jul 26, 2021)
20-49017265-G-A		not specified • Periventricular heterotopia with microcephaly, autosomal recessive • ARFGEF2-related disorder	Conflicting classifications of pathogenicity (Dec 14, 2024)
20-49017267-G-A			Uncertain significance (Sep 16, 2024)
20-49017279-A-C		Periventricular heterotopia with microcephaly, autosomal recessive	Conflicting classifications of pathogenicity (Dec 18, 2024)
20-49017281-T-A		Periventricular heterotopia with microcephaly, autosomal recessive	Uncertain significance (Jan 13, 2018)
20-49017306-A-G		Periventricular heterotopia with microcephaly, autosomal recessive	Uncertain significance (Jan 13, 2018)
20-49017336-A-G		not specified	Uncertain significance (Jul 03, 2022)
20-49017374-A-G			Uncertain significance (Jul 22, 2022)
20-49017384-A-G		Inborn genetic diseases	Uncertain significance (Oct 05, 2022)
20-49017404-T-C			Likely benign (Dec 26, 2023)
20-49017469-A-AT			Benign (Mar 03, 2015)
20-49017482-A-G			Likely benign (Apr 03, 2024)
20-49017495-G-A		Periventricular laminar heterotopia	Likely pathogenic (-)
20-49017497-T-C		ARFGEF2-related disorder	Likely benign (Dec 09, 2021)
20-49017503-A-T		Periventricular heterotopia with microcephaly, autosomal recessive	Conflicting classifications of pathogenicity (Jan 25, 2025)
20-49017510-G-C		Inborn genetic diseases	Uncertain significance (Mar 14, 2025)
20-49017521-A-G		Periventricular heterotopia with microcephaly, autosomal recessive	Uncertain significance (Jan 24, 2024)
20-49017531-A-T		Inborn genetic diseases	Uncertain significance (Aug 22, 2023)
20-49018802-A-G			Benign (Jun 14, 2018)
20-49018856-A-G			Likely benign (Jun 12, 2019)
20-49018865-C-T			Likely benign (Aug 26, 2022)
20-49018885-A-T		Inborn genetic diseases	Uncertain significance (Apr 07, 2022)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP