Annotation Detail
Information
- Associated Genes
- COL4A5
- Associated Variants
-
COL4A5 c.687+5G>A
(
ENST00000361603.7,
ENST00000328300.11 )
COL4A5 c.687+5G>A ( ENST00000328300.11, ENST00000361603.7 ) - Associated Disease
- X-linked Alport syndrome
- Source Database
- ClinVar
- Description
- NM_033380.3(COL4A5):c.687+5G>A AND X-linked Alport syndrome
- ClinVar Allele ID
- 426397
- ClinVar RefSeq Alternation Syntax
- NM_000495.5:c.687+5G>A
- ClinVar RefSeq Alternation Syntax
- NM_033380.3:c.687+5G>A
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2017-09-29
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000984250
- ClinVar Disease
- X-linked Alport syndrome
- Observed Origin Sample
- unknown
Drugs