ARFGEF1-DT

ARFGEF1 divergent transcript, the group of Divergent transcripts

Basic information

Region (hg38): 8:67343138-67491875

Links

ENSG00000271966 ∙ NCBI:102724708 ∙ ∙ HGNC:55237 ∙ ∙ ∙ 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 ARFGEF1-DT gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ARFGEF1-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 ARFGEF1-DT

This is a list of pathogenic ClinVar variants found in the ARFGEF1-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
8-67343214-A-G			Uncertain significance (Apr 01, 2024)
8-67343250-G-A		Inborn genetic diseases	Uncertain significance (Sep 07, 2023)
8-67343251-T-A		ARFGEF1-related disorder	Uncertain significance (Nov 13, 2023)
8-67343278-C-T		Inborn genetic diseases	Uncertain significance (Apr 09, 2024)
8-67422176-T-C		Familial temporal lobe epilepsy 5	Likely benign (Jan 13, 2018)
8-67422218-T-C		Familial temporal lobe epilepsy 5	Uncertain significance (Jan 13, 2018)
8-67422244-T-G		Familial temporal lobe epilepsy 5	Uncertain significance (Jan 13, 2018)
8-67422262-A-G		Familial temporal lobe epilepsy 5	Likely benign (Jan 13, 2018)
8-67422372-G-A		Familial temporal lobe epilepsy 5	Uncertain significance (Jan 12, 2018)
8-67422510-A-G		Febrile seizures, familial, 11	Likely benign (May 17, 2018)
8-67422520-A-C		Febrile seizures, familial, 11	Uncertain significance (Feb 27, 2020)
8-67422524-G-T		Familial temporal lobe epilepsy 5	Uncertain significance (Jan 13, 2021)
8-67422530-T-C		Familial temporal lobe epilepsy 5 • Febrile seizures, familial, 11 • not specified	Uncertain significance (Mar 21, 2022)
8-67422546-A-G		Febrile seizures, familial, 11	Likely benign (Sep 18, 2018)
8-67422547-G-A		Febrile seizures, familial, 11 • Familial temporal lobe epilepsy 5;Febrile seizures, familial, 11 • Familial temporal lobe epilepsy 5	Uncertain significance (Dec 06, 2022)
8-67422572-G-A		Familial temporal lobe epilepsy 5	Uncertain significance (Jan 13, 2018)
8-67422578-T-C		not specified	Uncertain significance (Jun 26, 2023)
8-67422581-G-A		not specified • Febrile seizures, familial, 11	Benign/Likely benign (Aug 04, 2023)
8-67422595-A-G		Familial temporal lobe epilepsy 5	Uncertain significance (Jun 22, 2023)
8-67422601-C-G		Malignant tumor of prostate	Uncertain significance (-)
8-67422607-T-C		not specified	Uncertain significance (Apr 12, 2023)
8-67422611-C-A		Familial temporal lobe epilepsy 5	Uncertain significance (Mar 26, 2024)
8-67422613-G-T		Familial temporal lobe epilepsy 5	Uncertain significance (-)
8-67422619-C-T		Febrile seizures, familial, 11 • See cases	Uncertain significance (Dec 08, 2021)
8-67422621-T-C		Febrile seizures, familial, 11	Likely benign (Jun 07, 2020)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP