EFCAB13-DT
Basic information
Links
Phenotypes
GenCC
Source:
ClinVar
This is a list of variants' phenotypes submitted to
- 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 | |||||
splice region ? | 0 | |||||
non coding ? | 57 | 11 | 13 | 88 | ||
Total | 4 | 4 | 57 | 11 | 13 |
Highest pathogenic variant AF is 0.000151
GnomAD
Source:
dbNSFP
Source: