Annotation Detail
Information
- Associated Genes
- MSTN C2orf88
- Associated Variants
-
MSTN p.Lys153Arg (p.K153R)
(
ENST00000260950.5 )
MSTN p.Lys153Arg (p.K153R) ( ENST00000260950.5 ) - Associated Disease
- myostatin-related muscle hypertrophy
- Source Database
- ClinVar
- Description
- NM_005259.3(MSTN):c.458A>G (p.Lys153Arg) AND Myostatin-related muscle hypertrophy
- ClinVar Allele ID
- 76596
- ClinVar RefSeq Alternation Syntax
- NM_005259.3:c.458A>G
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2019-05-28
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000055914
- ClinVar Disease
- Myostatin-related muscle hypertrophy
- Observed Origin Sample
- germline
- Observed Origin Sample
- unknown
Drugs