Variant (rsID / SNP)
rs2298758
rs2298758 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CBS. Location: chromosome 21, position 44,485,527. Clinical significance in the table: Benign.
Reference-table entries
CBSBenign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 21:44485527
- Cytoband
- 21q22.3
- HGVS
- NM_000071.3(CBS):c.636C>T (p.Asn212=)
- Allele change
- Synonymous_N212N
Associated conditions / phenotypes
Cardiovascular phenotype|Classic homocystinuria|Connective tissue disorder
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.