EFCAB13-DT

EFCAB13 divergent transcript, the group of Divergent transcripts

Basic information

Region (hg38): 17:47279525-47492672

Links

ENSG00000263293 ∙ NCBI:102724508 ∙ ∙ HGNC:55338 ∙ ∙ ∙ 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 EFCAB13-DT gene.

• Glanzmann thrombasthenia (60 variants)
• not provided (21 variants)
• Bleeding disorder, platelet-type, 24 (6 variants)
• Glanzmann thrombasthenia 1 (3 variants)
• not specified (2 variants)
• Glanzmann thrombasthenia 2 (2 variants)
• ITGB3-related condition (2 variants)
• Inborn genetic diseases (2 variants)
• Thrombocytopenia (1 variants)
• Thrombocytopenia;Abnormal platelet aggregation (1 variants)
• Thrombocytopenia;Increased mean platelet volume (1 variants)
• Platelet-type bleeding disorder 16 (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the EFCAB13-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)		1				1
splice region						0
non coding	4	3	57	11	13	88
Total	4	4	57	11	13

Highest pathogenic variant AF is 0.000151

Variants in EFCAB13-DT

This is a list of pathogenic ClinVar variants found in the EFCAB13-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
17-47283340-C-A		Glanzmann thrombasthenia	Uncertain significance (Aug 20, 2024)
17-47283341-T-C			Likely benign (Dec 16, 2023)
17-47283341-T-G			Likely benign (Apr 13, 2023)
17-47283342-C-T			Likely benign (Mar 21, 2023)
17-47283343-C-T			Likely benign (Oct 27, 2023)
17-47283346-T-C			Likely benign (Sep 30, 2023)
17-47283347-C-T			Likely benign (Aug 16, 2023)
17-47283352-A-G		Glanzmann thrombasthenia	Pathogenic (Oct 14, 2020)
17-47283359-G-A			Likely benign (Aug 09, 2023)
17-47283359-GC-G		Bleeding disorder, platelet-type, 24	Uncertain significance (Jul 07, 2022)
17-47283362-T-C			Likely benign (Jan 04, 2024)
17-47283363-C-G		Glanzmann thrombasthenia	Likely benign (Jun 16, 2020)
17-47283364-T-C		PL(A1)/(A2) ALLOANTIGEN POLYMORPHISM • not specified • Glanzmann thrombasthenia • Myocardial infarction, susceptibility to	Benign (Jun 18, 2020)
17-47283368-C-T		Glanzmann thrombasthenia • not specified	Likely benign (Jan 04, 2024)
17-47283371-A-G			Likely benign (Jul 13, 2023)
17-47283375-C-T		Glanzmann thrombasthenia	Likely pathogenic (Aug 15, 2023)
17-47283379-G-A		Glanzmann thrombasthenia	Uncertain significance (Aug 20, 2024)
17-47283383-C-T			Likely benign (Jan 31, 2023)
17-47283385-T-G		Glanzmann thrombasthenia • Abnormal bleeding;Thrombocytopenia • ITGB3-related disorder • not specified	Benign (Dec 19, 2023)
17-47283389-G-A		not specified • Glanzmann thrombasthenia	Likely benign (Jun 01, 2023)
17-47283410-CTG-C		Glanzmann thrombasthenia	Pathogenic (Nov 09, 2021)
17-47283411-TG-T		Glanzmann thrombasthenia	Pathogenic (Sep 04, 2020)
17-47283423-T-G		Inborn genetic diseases	Uncertain significance (Apr 01, 2024)
17-47283428-C-T			Likely benign (Oct 19, 2023)
17-47283447-G-C			Uncertain significance (Feb 28, 2023)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP