Annotation Detail
Information
- Associated Genes
- COL5A1 LOC101448202
- Associated Variants
-
COL5A1 c.*190G>A
(
ENST00000371817.8,
ENST00000371820.4 )
COL5A1 c.*190G>A ( ENST00000371817.8, ENST00000371820.4 ) - Associated Disease
- Ehlers-Danlos syndrome type 7A
- Source Database
- ClinVar
- Description
- NM_000093.5(COL5A1):c.*190G>A AND Ehlers-Danlos syndrome type 7A
- ClinVar Allele ID
- 307503
- ClinVar RefSeq Alternation Syntax
- NM_001278074.1:c.*190G>A
- ClinVar RefSeq Alternation Syntax
- NM_000093.5:c.*190G>A
- Clinical Significance Description
- Likely benign
- Clinical Significance Last Update
- 2016-06-14
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000327022
- ClinVar Disease
- Ehlers-Danlos syndrome type 7A
- Observed Origin Sample
- germline
Drugs