Annotation Detail
Information
- Associated Genes
- QARS1
- Associated Variants
-
QARS1 p.Arg378Cys (p.R378C)
(
ENST00000306125.12,
ENST00000414533.5,
ENST00000464962.6 )
QARS1 p.Arg378Cys (p.R378C) ( ENST00000306125.12, ENST00000414533.5, ENST00000464962.6 ) - Associated Disease
- microcephaly Insomnia
- Source Database
- ClinVar
- Description
- NM_005051.3(QARS1):c.1132C>T (p.Arg378Cys) AND multiple conditions
- ClinVar Allele ID
- 590052
- ClinVar RefSeq Alternation Syntax
- NM_001272073.2:c.1099C>T
- ClinVar RefSeq Alternation Syntax
- NM_005051.3:c.1132C>T
- ClinVar RefSeq Alternation Syntax
- NR_073590.2:n.1107C>T
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000735295
- ClinVar Disease
- Insomnia
- ClinVar Disease
- Microcephaly
- Observed Origin Sample
- germline
Drugs