Annotation Detail
Information
- Associated Genes
- TMC1
- Associated Variants
-
TMC1 p.Phe571= (p.F571=)
(
ENST00000340019.4,
ENST00000297784.10,
ENST00000645208.2,
ENST00000651183.1 )
TMC1 p.Phe571= (p.F571=) ( ENST00000297784.10, ENST00000340019.4, ENST00000645208.2, ENST00000651183.1 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_138691.3(TMC1):c.1713C>T (p.Phe571=) AND not provided
- ClinVar Allele ID
- 57027
- ClinVar RefSeq Alternation Syntax
- NM_138691.3:c.1713C>T
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2024-02-01
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV002054801
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
Drugs