TARID
Basic information
Previous symbols: [ "EYA4-AS1" ]
Links
Phenotypes
GenCC
Source:
ClinVar
This is a list of variants' phenotypes submitted to
- Dilated cardiomyopathy 1J (233 variants)
- not provided (101 variants)
- Autosomal dominant nonsyndromic hearing loss 10 (71 variants)
- Cardiovascular phenotype (57 variants)
- not specified (17 variants)
- Dilated cardiomyopathy 1J;Autosomal dominant nonsyndromic hearing loss 10 (11 variants)
- Inborn genetic diseases (7 variants)
- Autosomal dominant nonsyndromic hearing loss 10;Dilated cardiomyopathy 1J (4 variants)
- EYA4-related condition (4 variants)
- Dilated Cardiomyopathy, Dominant (3 variants)
- Nonsyndromic Hearing Loss, Dominant (3 variants)
- Hearing impairment (2 variants)
- EYA4-Related Disorders (1 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the TARID 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 ? | 10 | 186 | 100 | 33 | 334 | |
Total | 10 | 5 | 187 | 100 | 33 |
Highest pathogenic variant AF is 0.00000657
GnomAD
Source:
dbNSFP
Source: