Annotation Detail
Information
- Associated Genes
- ASL
- Associated Variants
-
ASL p.Gln286Arg (p.Q286R)
(
ENST00000304874.14,
ENST00000380839.9,
ENST00000395331.4,
ENST00000395332.8,
ENST00000673518.1 )
ASL p.Gln286Arg (p.Q286R) ( ENST00000304874.14, ENST00000380839.9, ENST00000395331.4, ENST00000395332.8, ENST00000673518.1 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_000048.4(ASL):c.857A>G (p.Gln286Arg) AND not provided
- ClinVar Allele ID
- 17438
- ClinVar RefSeq Alternation Syntax
- NM_000048.4:c.857A>G
- ClinVar RefSeq Alternation Syntax
- NM_001024946.2:c.779A>G
- ClinVar RefSeq Alternation Syntax
- NM_001024944.2:c.857A>G
- ClinVar RefSeq Alternation Syntax
- NM_001024943.2:c.857A>G
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2021-11-19
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000078017
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
Drugs