Annotation Detail
Information
- Associated Genes
- LARS2
- Associated Variants
-
LARS2 p.Thr629Met (p.T629M)
(
ENST00000414984.5,
ENST00000642274.1,
ENST00000645846.2,
ENST00000650792.2 )
LARS2 p.Thr629Met (p.T629M) ( ENST00000414984.5, ENST00000642274.1, ENST00000645846.2, ENST00000650792.2 ) - Associated Disease
- Perrault syndrome 4
- Source Database
- ClinVar
- Description
- NM_015340.4(LARS2):c.1886C>T (p.Thr629Met) AND Perrault syndrome 4
- ClinVar Allele ID
- 70523
- ClinVar RefSeq Alternation Syntax
- NM_015340.4:c.1886C>T
- ClinVar RefSeq Alternation Syntax
- NM_001368263.1:c.1886C>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2013-04-04
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000049286
- ClinVar Disease
- Perrault syndrome 4
- Observed Origin Sample
- germline
- Pubmed
- 23541342
Drugs