Annotation Detail
Information
- Associated Genes
- LARS2
- Associated Variants
-
LARS2 p.Arg605His (p.R605H)
(
ENST00000414984.5,
ENST00000642274.1,
ENST00000645846.2,
ENST00000650792.2 )
LARS2 p.Arg605His (p.R605H) ( ENST00000414984.5, ENST00000642274.1, ENST00000645846.2, ENST00000650792.2 ) - Associated Disease
- Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome Perrault syndrome 4
- Source Database
- ClinVar
- Description
- NM_015340.4(LARS2):c.1814G>A (p.Arg605His) AND multiple conditions
- ClinVar Allele ID
- 496733
- ClinVar RefSeq Alternation Syntax
- NM_001368263.1:c.1814G>A
- ClinVar RefSeq Alternation Syntax
- NM_015340.4:c.1814G>A
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2018-10-31
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000764507
- ClinVar Disease
- Perrault syndrome 4
- ClinVar Disease
- Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome
- Observed Origin Sample
- unknown
Drugs