GNAO1-DT

GNAO1 divergent transcript, the group of Divergent transcripts

Basic information

Region (hg38): 16:55984009-56194518

Links

ENSG00000246379 ∙ NCBI:283856 ∙ ∙ HGNC:27543 ∙ ∙ ∙ 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 GNAO1-DT gene.

• not provided (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the GNAO1-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				1	1	2
Total	0	0	0	1	1

Variants in GNAO1-DT

This is a list of pathogenic ClinVar variants found in the GNAO1-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
16-56191028-G-A			Likely benign (Sep 29, 2018)
16-56191113-G-A			Benign (Jul 21, 2018)
16-56191124-G-A			Benign (Jul 31, 2018)
16-56191213-G-C			Likely benign (Aug 21, 2019)
16-56191219-G-T			Benign (Jul 26, 2018)
16-56192239-G-C		Neurodevelopmental disorder with involuntary movements	Likely pathogenic (Aug 17, 2023)
16-56192244-T-C		Early infantile epileptic encephalopathy with suppression bursts	Likely benign (Feb 27, 2023)
16-56192252-G-T		Developmental and epileptic encephalopathy, 17	Pathogenic (-)
16-56192256-A-G		Early infantile epileptic encephalopathy with suppression bursts	Likely benign (Jan 28, 2024)
16-56192256-AGAG-A		Early infantile epileptic encephalopathy with suppression bursts	Uncertain significance (Nov 24, 2023)
16-56192259-G-A		Early infantile epileptic encephalopathy with suppression bursts	Likely benign (Apr 24, 2020)
16-56192262-G-A		Early infantile epileptic encephalopathy with suppression bursts • GNAO1-related disorder • Inborn genetic diseases	Likely benign (Jan 22, 2024)
16-56192268-C-T		Early infantile epileptic encephalopathy with suppression bursts	Likely benign (Nov 16, 2022)
16-56192271-C-T		Early infantile epileptic encephalopathy with suppression bursts	Likely benign (Dec 06, 2022)
16-56192273-T-C			Likely pathogenic (Jul 01, 2020)
16-56192289-G-A		Early infantile epileptic encephalopathy with suppression bursts	Conflicting classifications of pathogenicity (Oct 16, 2023)
16-56192291-T-A		Early infantile epileptic encephalopathy with suppression bursts	Uncertain significance (Mar 26, 2022)
16-56192292-T-G		Developmental and epileptic encephalopathy, 17 • Developmental and epileptic encephalopathy, 17;Neurodevelopmental disorder with involuntary movements	Likely pathogenic (Feb 09, 2023)
16-56192293-G-A		Early infantile epileptic encephalopathy with suppression bursts • Inborn genetic diseases	Conflicting classifications of pathogenicity (Aug 22, 2022)
16-56192301-C-T		Early infantile epileptic encephalopathy with suppression bursts	Likely benign (Sep 12, 2017)
16-56192302-C-T		Early infantile epileptic encephalopathy with suppression bursts	Uncertain significance (Oct 07, 2022)
16-56192310-G-A		Early infantile epileptic encephalopathy with suppression bursts	Likely benign (Jan 19, 2024)
16-56192311-G-A		Early infantile epileptic encephalopathy with suppression bursts	Uncertain significance (Aug 16, 2022)
16-56192319-C-T		Early infantile epileptic encephalopathy with suppression bursts	Likely benign (Jun 20, 2023)
16-56192324-C-T		Early infantile epileptic encephalopathy with suppression bursts	Uncertain significance (Jul 19, 2022)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP