GSK3B-DT

GSK3B divergent transcript, the group of Divergent transcripts

Basic information

Region (hg38): 3:120094737-120185702

Links

ENSG00000242622 ∙ NCBI:107986119 ∙ ∙ HGNC:55635 ∙ ∙ ∙ 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 GSK3B-DT gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the GSK3B-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 GSK3B-DT

This is a list of pathogenic ClinVar variants found in the GSK3B-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
3-120167176-G-C		not specified	Uncertain significance (Mar 03, 2022)
3-120167198-C-T		not specified	Uncertain significance (Apr 26, 2023)
3-120167211-A-G		not specified	Uncertain significance (Feb 13, 2024)
3-120167235-A-C		not specified	Uncertain significance (Dec 02, 2021)
3-120167243-T-C		not specified	Uncertain significance (Sep 14, 2022)
3-120167288-A-C		not specified	Likely benign (Dec 21, 2022)
3-120167295-G-T		not specified	Uncertain significance (Jan 20, 2023)
3-120167296-C-A		not specified	Uncertain significance (Jun 10, 2024)
3-120167310-G-C		not specified	Uncertain significance (May 17, 2023)
3-120167325-G-A		not specified	Uncertain significance (Nov 08, 2022)
3-120167357-C-T		not specified	Uncertain significance (Dec 16, 2023)
3-120167361-G-C		not specified	Uncertain significance (Sep 13, 2023)
3-120167388-G-A		not specified	Uncertain significance (Dec 01, 2022)
3-120167396-G-A		not specified	Uncertain significance (Feb 03, 2022)
3-120167421-C-T		not specified	Uncertain significance (Aug 16, 2022)
3-120167547-T-G		not specified	Uncertain significance (Mar 28, 2022)
3-120167552-CT-C		Deafness, autosomal recessive 121	Likely pathogenic (Mar 25, 2024)
3-120167558-C-A		not specified	Uncertain significance (Aug 02, 2021)
3-120167610-G-A		not specified	Uncertain significance (Dec 19, 2022)
3-120167613-G-GC		Deafness, autosomal recessive 121 • Hearing loss, autosomal recessive	Pathogenic/Likely pathogenic (Oct 26, 2023)
3-120167619-C-T		not specified	Uncertain significance (Feb 05, 2024)
3-120167648-G-A		not specified	Uncertain significance (Sep 29, 2022)
3-120167651-C-T		not specified	Uncertain significance (Dec 21, 2023)
3-120167681-A-C		not specified	Uncertain significance (Dec 27, 2023)
3-120167775-G-C		not specified	Uncertain significance (May 27, 2022)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP