Annotation Detail
Information
- Associated Genes
- MYH9
- Associated Variants
-
MYH9 p.Arg1472Gln (p.R1472Q)
(
ENST00000216181.11,
ENST00000685801.1 )
MYH9 p.Arg1472Gln (p.R1472Q) ( ENST00000216181.11, ENST00000685801.1 ) - Associated Disease
- Inborn genetic diseases
- Source Database
- ClinVar
- Description
- NM_002473.6(MYH9):c.4415G>A (p.Arg1472Gln) AND Inborn genetic diseases
- ClinVar Allele ID
- 2773320
- ClinVar RefSeq Alternation Syntax
- NM_002473.6:c.4415G>A
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2023-07-12
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV003367118
- ClinVar Disease
- Inborn genetic diseases
- Observed Origin Sample
- germline
Drugs