Variant (rsID / SNP)
rs779250698
rs779250698 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CBS. Location: chromosome 21, position 44,492,276. Clinical significance in the table: Pathogenic/Likely pathogenic.
Reference-table entries
CBSPathogenic
- Clinical significance (as recorded)
- Pathogenic/Likely pathogenic
- Variant type
- Deletion
- Chromosome / position
- 21:44492276
- Cytoband
- 21q22.3
- HGVS
- NM_000071.3(CBS):c.28del (p.Val10fs)
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.