CTTN-DT

CTTN divergent transcript, the group of Divergent transcripts

Basic information

Region (hg38): 11:70371622-70398492

Links

ENSG00000246889 ∙ ∙ ∙ HGNC:55592 ∙ ∙ ∙ 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 CTTN-DT gene.

• Inborn genetic diseases (10 variants)
• not provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CTTN-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			11			11
Total	0	0	11	0	0

Variants in CTTN-DT

This is a list of pathogenic ClinVar variants found in the CTTN-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
11-70372215-A-C		not specified	Uncertain significance (Dec 03, 2021)
11-70372215-A-G		not specified	Uncertain significance (Jul 16, 2024)
11-70372219-T-C		not specified	Uncertain significance (Jan 17, 2023)
11-70372221-G-A		not specified	Uncertain significance (Mar 07, 2024)
11-70372233-A-G		not specified	Uncertain significance (Sep 26, 2024)
11-70372241-C-T			Benign (May 17, 2018)
11-70372257-G-A		not specified	Uncertain significance (Jun 22, 2023)
11-70372284-C-A		not specified	Uncertain significance (Nov 13, 2024)
11-70372290-C-T		not specified	Uncertain significance (May 15, 2023)
11-70372314-G-T		not specified	Uncertain significance (Dec 02, 2024)
11-70372320-G-C		not specified	Uncertain significance (Jun 13, 2023)
11-70372325-G-C		not specified	Uncertain significance (Oct 08, 2024)
11-70372356-C-G		not specified	Uncertain significance (Jul 12, 2023)
11-70372357-G-A		not specified	Uncertain significance (Jun 18, 2024)
11-70372389-A-G		not specified	Uncertain significance (Jan 23, 2024)
11-70372521-A-G		not specified	Uncertain significance (Sep 20, 2023)
11-70372531-A-C		not specified	Uncertain significance (Feb 28, 2024)
11-70372569-T-G		not specified	Uncertain significance (Apr 01, 2022)
11-70372583-A-C		PPFIA1-related disorder	Likely benign (Aug 26, 2019)
11-70374920-G-T		not specified	Uncertain significance (Feb 28, 2023)
11-70374942-G-T		not specified	Uncertain significance (Sep 12, 2024)
11-70374965-A-G		not specified	Uncertain significance (Dec 09, 2024)
11-70374990-A-G		not specified	Uncertain significance (Jan 10, 2023)
11-70375012-C-T		PPFIA1-related disorder	Likely benign (Nov 11, 2019)
11-70375054-A-G		PPFIA1-related disorder	Benign (Jul 01, 2019)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP