Annotation Detail
Information
- Associated Genes
- COL5A1 LOC101448202
- Associated Variants
-
COL5A1 c.*83C>T
(
ENST00000371817.8,
ENST00000371820.4 )
COL5A1 c.*83C>T ( ENST00000371817.8, ENST00000371820.4 ) - Associated Disease
- Ehlers-Danlos syndrome type 7A
- Source Database
- ClinVar
- Description
- NM_000093.5(COL5A1):c.*83C>T AND Ehlers-Danlos syndrome type 7A
- ClinVar Allele ID
- 311762
- ClinVar RefSeq Alternation Syntax
- NM_000093.5:c.*83C>T
- ClinVar RefSeq Alternation Syntax
- NM_001278074.1:c.*83C>T
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2016-06-14
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000323531
- ClinVar Disease
- Ehlers-Danlos syndrome type 7A
- Observed Origin Sample
- germline
Drugs