Variant (rsID / SNP)
rs766453711
rs766453711 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CBS. Location: chromosome 21, position 44,484,100. Clinical significance in the table: Pathogenic.
Reference-table entries
CBSPathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- Deletion
- Chromosome / position
- 21:44484100
- Cytoband
- 21q22.3
- HGVS
- NM_000071.2(CBS):c.738delG
Associated conditions / phenotypes
Classic homocystinuria|HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.