Annotation Detail
Information
- Associated Genes
- EYA1
- Associated Variants
-
EYA1 p.Arg390Ter (p.R390*)
(
ENST00000303824.11,
ENST00000340726.8,
ENST00000388740.4,
ENST00000388741.7,
ENST00000388742.8,
ENST00000388743.6,
ENST00000419131.6,
ENST00000643681.1,
ENST00000644229.1,
ENST00000644712.1,
ENST00000645793.1,
ENST00000647540.1 )
EYA1 p.Arg390Ter (p.R390*) ( ENST00000303824.11, ENST00000340726.8, ENST00000388740.4, ENST00000388741.7, ENST00000388742.8, ENST00000388743.6, ENST00000419131.6, ENST00000643681.1, ENST00000644229.1, ENST00000644712.1, ENST00000645793.1, ENST00000647540.1 ) - Associated Disease
- branchiootorenal syndrome 1
- Source Database
- ClinVar
- Description
- NM_000503.6(EYA1):c.1081C>T (p.Arg361Ter) AND Branchiootorenal syndrome 1
- ClinVar Allele ID
- 22982
- ClinVar RefSeq Alternation Syntax
- NM_172058.4:c.1081C>T
- ClinVar RefSeq Alternation Syntax
- NM_001370336.1:c.1119+25078C>T
- ClinVar RefSeq Alternation Syntax
- NM_000503.6:c.1081C>T
- ClinVar RefSeq Alternation Syntax
- NM_001370334.1:c.1081C>T
- ClinVar RefSeq Alternation Syntax
- NM_172059.5:c.1122+25078C>T
- ClinVar RefSeq Alternation Syntax
- NM_001288574.2:c.1063C>T
- ClinVar RefSeq Alternation Syntax
- NM_001370335.1:c.1081C>T
- ClinVar RefSeq Alternation Syntax
- NM_001370333.1:c.1168C>T
- ClinVar RefSeq Alternation Syntax
- NM_001288575.2:c.715C>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2022-01-05
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000008406
- ClinVar Disease
- Branchiootorenal syndrome 1
- Observed Origin Sample
- germline
- Pubmed
- 16691597
- Pubmed
- 18177466
Drugs