GET1-SH3BGR

GET1-SH3BGR readthrough

Basic information

Region (hg38): 21:39380331-39515506

Links

ENSG00000285815 ∙ NCBI:106865373 ∙ ∙ HGNC:54635 ∙ ∙ ∙ 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 GET1-SH3BGR gene.

• Inborn genetic diseases (44 variants)
• not provided (3 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the GET1-SH3BGR 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			11			11
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding			32	4		36
Total	0	0	43	4	0

Variants in GET1-SH3BGR

This is a list of pathogenic ClinVar variants found in the GET1-SH3BGR region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
21-39380389-G-C		not specified	Uncertain significance (Feb 27, 2024)
21-39380395-C-T		not specified	Uncertain significance (Sep 27, 2021)
21-39380449-A-G		not specified	Uncertain significance (Feb 17, 2024)
21-39390723-C-T		not specified	Uncertain significance (Dec 20, 2023)
21-39390731-G-C		not specified	Uncertain significance (Dec 14, 2023)
21-39390761-A-G		not specified	Uncertain significance (Feb 21, 2024)
21-39390766-G-T		not specified	Uncertain significance (Feb 28, 2024)
21-39390797-G-A		not specified	Uncertain significance (Aug 12, 2022)
21-39390852-T-G		not specified	Uncertain significance (Aug 12, 2022)
21-39390861-A-G		not specified	Uncertain significance (Mar 29, 2023)
21-39391777-C-T		not specified	Uncertain significance (Dec 21, 2022)
21-39391799-T-G		not specified	Uncertain significance (Aug 02, 2023)
21-39393205-G-A		not specified	Uncertain significance (Jul 09, 2021)
21-39393220-G-A		not specified	Uncertain significance (Aug 21, 2023)
21-39393250-C-T		not specified	Uncertain significance (Sep 14, 2022)
21-39393251-G-A		not specified	Uncertain significance (Aug 01, 2023)
21-39405910-G-A		not specified	Uncertain significance (Dec 17, 2023)
21-39405959-C-T		not specified	Uncertain significance (Sep 14, 2021)
21-39406013-T-C		not specified	Uncertain significance (Jan 20, 2023)
21-39406032-G-C			Likely benign (Apr 01, 2023)
21-39406099-A-G		not specified	Uncertain significance (Oct 06, 2022)
21-39406173-A-G			Likely benign (Apr 01, 2023)
21-39406265-C-T		not specified	Uncertain significance (Jun 07, 2023)
21-39406310-C-G		not specified	Uncertain significance (Dec 16, 2023)
21-39406354-G-A		not specified	Uncertain significance (Apr 07, 2022)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP