Annotation Detail
Information
- Associated Genes
- CBS
- Associated Variants
-
CBS c.209+1G>A
(
ENST00000352178.9,
ENST00000359624.7,
ENST00000398158.5,
ENST00000398165.8 )
CBS c.209+1G>A ( ENST00000352178.9, ENST00000359624.7, ENST00000398158.5, ENST00000398165.8 ) - Associated Disease
- homocystinuria
- Source Database
- ClinVar
- Description
- NM_000071.3(CBS):c.209+1G>A AND Homocystinuria
- ClinVar Allele ID
- 621874
- ClinVar RefSeq Alternation Syntax
- NM_001178008.3:c.209+1G>A
- ClinVar RefSeq Alternation Syntax
- NM_001178009.3:c.209+1G>A
- ClinVar RefSeq Alternation Syntax
- NM_000071.3:c.209+1G>A
- ClinVar RefSeq Alternation Syntax
- NM_001320298.2:c.209+1G>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2018-09-10
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000780080
- ClinVar Disease
- Homocystinuria
- Observed Origin Sample
- germline
Drugs