Annotation Detail
Information
- Associated Genes
- COL4A1 COL4A2
- Associated Variants
-
COL4A2 c.99+242A>G
(
ENST00000480609.2,
ENST00000360467.7,
ENST00000649951.2,
ENST00000617564.3,
ENST00000714396.1,
ENST00000714399.1,
ENST00000619688.3,
ENST00000649101.1,
ENST00000494852.3,
ENST00000650540.1,
ENST00000400163.8 )
COL4A2 c.99+242A>G ( ENST00000360467.7, ENST00000400163.8, ENST00000480609.2, ENST00000494852.3, ENST00000617564.3, ENST00000619688.3, ENST00000649101.1, ENST00000649951.2, ENST00000650540.1, ENST00000714396.1, ENST00000714399.1 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_001846.4(COL4A2):c.99+242A>G AND not provided
- ClinVar Allele ID
- 1244261
- ClinVar RefSeq Alternation Syntax
- NM_001846.4:c.99+242A>G
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2024-01-29
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001653108
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
Drugs