Annotation Detail
Information
- Associated Genes
- CBS
- Associated Variants
-
CBS p.Tyr233= (p.Y233=)
(
ENST00000352178.9,
ENST00000359624.7,
ENST00000398158.5,
ENST00000398165.8 )
CBS p.Tyr233= (p.Y233=) ( ENST00000352178.9, ENST00000359624.7, ENST00000398158.5, ENST00000398165.8 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_000071.3(CBS):c.699C>T (p.Tyr233=) AND not provided
- ClinVar Allele ID
- 98337
- ClinVar RefSeq Alternation Syntax
- NM_001321072.1:c.384C>T
- ClinVar RefSeq Alternation Syntax
- NM_001178008.3:c.699C>T
- ClinVar RefSeq Alternation Syntax
- NM_001178009.3:c.699C>T
- ClinVar RefSeq Alternation Syntax
- NM_001320298.2:c.699C>T
- ClinVar RefSeq Alternation Syntax
- NM_000071.3:c.699C>T
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2023-11-29
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001811356
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
Drugs