Annotation Detail
Information
- Associated Genes
- EYA1
- Associated Variants
-
EYA1 c.1562+1G>C
(
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 c.1562+1G>C ( 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
- Branchiootic syndrome 1 branchiootorenal syndrome 1 Otofaciocervical syndrome 1
- Source Database
- ClinVar
- Description
- NM_000503.6(EYA1):c.1475+1G>C AND multiple conditions
- ClinVar Allele ID
- 174396
- ClinVar RefSeq Alternation Syntax
- NM_001288575.2:c.1109+1G>C
- ClinVar RefSeq Alternation Syntax
- NM_001370336.1:c.1454+1G>C
- ClinVar RefSeq Alternation Syntax
- NM_001411797.1:c.1376+1G>C
- ClinVar RefSeq Alternation Syntax
- NM_001370334.1:c.1475+1G>C
- ClinVar RefSeq Alternation Syntax
- NM_001370333.1:c.1562+1G>C
- ClinVar RefSeq Alternation Syntax
- NM_172058.4:c.1475+1G>C
- ClinVar RefSeq Alternation Syntax
- NM_001370335.1:c.1475+1G>C
- ClinVar RefSeq Alternation Syntax
- NM_172059.5:c.1457+1G>C
- ClinVar RefSeq Alternation Syntax
- NM_172060.4:c.1376+1G>C
- ClinVar RefSeq Alternation Syntax
- NM_000503.6:c.1475+1G>C
- ClinVar RefSeq Alternation Syntax
- NM_001288574.2:c.1457+1G>C
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2021-07-13
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV002498692
- ClinVar Disease
- Otofaciocervical syndrome 1
- ClinVar Disease
- Branchiootic syndrome 1
- ClinVar Disease
- Branchiootorenal syndrome 1
- Observed Origin Sample
- unknown
Drugs