CNN3-DT

CNN3 divergent transcript, the group of Divergent transcripts

Basic information

Region (hg38): 1:94926381-95067545

Links

ENSG00000235501 ∙ NCBI:729970 ∙ ∙ HGNC:54176 ∙ ∙ ∙ 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 CNN3-DT gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CNN3-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 CNN3-DT

This is a list of pathogenic ClinVar variants found in the CNN3-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
1-94926849-C-T		not specified	Uncertain significance (Apr 20, 2023)
1-94983086-C-T		Congenital myasthenic syndrome 15	Uncertain significance (Aug 23, 2022)
1-94983094-G-A		Congenital myasthenic syndrome 15	Likely benign (Dec 20, 2022)
1-94983101-G-A		Inborn genetic diseases • Congenital myasthenic syndrome 15 • Myopathy, epilepsy, and progressive cerebral atrophy • Intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies	Uncertain significance (Apr 11, 2023)
1-94983106-G-A		Congenital myasthenic syndrome 15	Likely benign (May 15, 2023)
1-94983108-G-A		Congenital myasthenic syndrome 15	Uncertain significance (Mar 18, 2022)
1-94983118-T-C		Congenital myasthenic syndrome 15 • ALG14-related disorder	Likely benign (Oct 15, 2023)
1-94983127-C-T		Congenital myasthenic syndrome 15	Likely benign (Oct 08, 2022)
1-94983128-G-A		Congenital myasthenic syndrome 15 • Intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies • Myopathy, epilepsy, and progressive cerebral atrophy • Inborn genetic diseases	Uncertain significance (Apr 11, 2023)
1-94983128-G-T		Inborn genetic diseases	Uncertain significance (Jul 27, 2024)
1-94983150-C-G		Inborn genetic diseases	Uncertain significance (Mar 19, 2024)
1-94983157-A-T		Congenital myasthenic syndrome 15 • Inborn genetic diseases	Uncertain significance (Jun 02, 2024)
1-94983167-A-G		Congenital myasthenic syndrome 15	Uncertain significance (Aug 27, 2021)
1-94983175-G-A		Congenital myasthenic syndrome 15	Likely benign (Jan 05, 2024)
1-94983176-G-C		Congenital myasthenic syndrome 15	Uncertain significance (Dec 11, 2023)
1-94983178-C-G		Congenital myasthenic syndrome 15	Uncertain significance (Dec 18, 2021)
1-94983181-G-A		Congenital myasthenic syndrome 15	Likely benign (Oct 22, 2023)
1-94983187-C-T		Congenital myasthenic syndrome 15	Likely benign (Jan 03, 2023)
1-94983188-G-A		Congenital myasthenic syndrome 15	Uncertain significance (Aug 31, 2022)
1-94983192-C-T		Congenital myasthenic syndrome 15 • Inborn genetic diseases • Myopathy, epilepsy, and progressive cerebral atrophy • Intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies	Uncertain significance (Apr 11, 2023)
1-94983194-A-C		Congenital myasthenic syndrome 15 • Inborn genetic diseases	Uncertain significance (Feb 05, 2024)
1-94983195-C-T		Congenital myasthenic syndrome 15 • Myopathy, epilepsy, and progressive cerebral atrophy • Inborn genetic diseases • Intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies	Uncertain significance (Apr 11, 2023)
1-94983196-A-C		Congenital myasthenic syndrome 15	Likely benign (Dec 21, 2023)
1-94983197-C-A		Inborn genetic diseases	Uncertain significance (Nov 15, 2021)
1-94983198-G-T		Congenital myasthenic syndrome 15	Uncertain significance (Sep 16, 2019)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP