Annotation Detail
Information
- Associated Genes
- MYH9 LOC112695089
- Associated Variants
-
MYH9 c.-153C>T
(
ENST00000216181.11,
ENST00000685801.1,
ENST00000691296.1 )
MYH9 c.-153C>T ( ENST00000216181.11, ENST00000685801.1, ENST00000691296.1 ) - Associated Disease
- MYH9-related disorder
- Source Database
- ClinVar
- Description
- NM_002473.6(MYH9):c.-153C>T AND MYH9-related disorder
- ClinVar Allele ID
- 352518
- ClinVar RefSeq Alternation Syntax
- NM_002473.6:c.-153C>T
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2018-01-12
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000270144
- ClinVar Disease
- MYH9-related disorder
- Observed Origin Sample
- germline
Drugs