EFCAB13-DT

EFCAB13 divergent transcript, the group of Divergent transcripts

Basic information

Region (hg38): 17:47279525-47492672

Links

ENSG00000263293NCBI:102724508HGNC:55338GenCCjaxSfariGnomADPubmedClinVar

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
clinvar
1
splice region
0
non coding
4
clinvar
3
clinvar
57
clinvar
11
clinvar
13
clinvar
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)1330326
17-47283341-T-C Likely benign (Dec 16, 2023)2825537
17-47283341-T-G Likely benign (Apr 13, 2023)2876024
17-47283342-C-T Likely benign (Mar 21, 2023)3016869
17-47283343-C-T Likely benign (Oct 27, 2023)2876368
17-47283346-T-C Likely benign (Sep 30, 2023)2888729
17-47283347-C-T Likely benign (Aug 16, 2023)2894564
17-47283352-A-G Glanzmann thrombasthenia Pathogenic (Oct 14, 2020)996186
17-47283359-G-A Likely benign (Aug 09, 2023)3014339
17-47283359-GC-G Bleeding disorder, platelet-type, 24 Uncertain significance (Jul 07, 2022)1693573
17-47283362-T-C Likely benign (Jan 04, 2024)2707620
17-47283363-C-G Glanzmann thrombasthenia Likely benign (Jun 16, 2020)953062
17-47283364-T-C PL(A1)/(A2) ALLOANTIGEN POLYMORPHISM • not specified • Glanzmann thrombasthenia • Myocardial infarction, susceptibility to Benign (Jun 18, 2020)13558
17-47283368-C-T Glanzmann thrombasthenia • not specified Likely benign (Jan 04, 2024)697901
17-47283371-A-G Likely benign (Jul 13, 2023)2724492
17-47283375-C-T Glanzmann thrombasthenia Likely pathogenic (Aug 15, 2023)631774
17-47283379-G-A Glanzmann thrombasthenia Uncertain significance (Aug 20, 2024)1210201
17-47283383-C-T Likely benign (Jan 31, 2023)2722736
17-47283385-T-G Glanzmann thrombasthenia • Abnormal bleeding;Thrombocytopenia • ITGB3-related disorder • not specified Benign (Dec 19, 2023)695335
17-47283389-G-A not specified • Glanzmann thrombasthenia Likely benign (Jun 01, 2023)435535
17-47283410-CTG-C Glanzmann thrombasthenia Pathogenic (Nov 09, 2021)1330313
17-47283411-TG-T Glanzmann thrombasthenia Pathogenic (Sep 04, 2020)953063
17-47283423-T-G Inborn genetic diseases Uncertain significance (Apr 01, 2024)3286839
17-47283428-C-T Likely benign (Oct 19, 2023)2721951
17-47283447-G-C Uncertain significance (Feb 28, 2023)2579426

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP