EP300-AS1
Basic information
Links
Phenotypes
GenCC
Source:
ClinVar
This is a list of variants' phenotypes submitted to
- Rubinstein-Taybi syndrome due to EP300 haploinsufficiency (214 variants)
- not provided (176 variants)
- not specified (42 variants)
- Inborn genetic diseases (30 variants)
- EP300-related condition (26 variants)
- Rubinstein-Taybi syndrome due to CREBBP mutations (25 variants)
- Menke-Hennekam syndrome 2 (9 variants)
- Rubinstein-Taybi syndrome due to CREBBP mutations;Rubinstein-Taybi syndrome due to EP300 haploinsufficiency;Colorectal cancer;Menke-Hennekam syndrome 2 (2 variants)
- See cases (2 variants)
- Intellectual disability (2 variants)
- Rubinstein-Taybi syndrome due to EP300 haploinsufficiency;Colorectal carcinoma (2 variants)
- Carcinoma of colon (1 variants)
- EP300-related disorders (1 variants)
- Multiple congenital anomalies (1 variants)
- Colorectal cancer (1 variants)
- Menke-Hennekam syndrome 2;Colorectal cancer;Rubinstein-Taybi syndrome due to CREBBP mutations;Rubinstein-Taybi syndrome due to EP300 haploinsufficiency (1 variants)
- Colorectal carcinoma;Rubinstein-Taybi syndrome due to EP300 haploinsufficiency (1 variants)
- Neurodevelopmental delay (1 variants)
- Colorectal cancer;Rubinstein-Taybi syndrome due to EP300 haploinsufficiency (1 variants)
- Rubinstein-Taybi syndrome due to EP300 haploinsufficiency;Rubinstein-Taybi syndrome (1 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the EP300-AS1 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 ? | 28 | 30 | 176 | 141 | 44 | 419 |
Total | 28 | 30 | 176 | 141 | 44 |
GnomAD
Source:
dbNSFP
Source: