Annotation Detail
Information
- Associated Genes
- LARS2 LARS2-AS1
- Associated Variants
-
LARS2 p.Thr522Asn (p.T522N)
(
ENST00000414984.5,
ENST00000642274.1,
ENST00000645846.2,
ENST00000650792.2 )
LARS2 p.Thr522Asn (p.T522N) ( ENST00000414984.5, ENST00000642274.1, ENST00000645846.2, ENST00000650792.2 ) - Associated Disease
- Rare genetic deafness
- Source Database
- ClinVar
- Description
- NM_015340.4(LARS2):c.1565C>A (p.Thr522Asn) AND Rare genetic deafness
- ClinVar Allele ID
- 70522
- ClinVar RefSeq Alternation Syntax
- NM_015340.4:c.1565C>A
- ClinVar RefSeq Alternation Syntax
- NM_001368263.1:c.1565C>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2017-01-02
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000604453
- ClinVar Disease
- Rare genetic deafness
- Observed Origin Sample
- germline
Drugs