Variant (rsID / SNP)
rs5742905
rs5742905 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CBS. Location: chromosome 21, position 44,483,184. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
CBSConflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 21:44483184
- Cytoband
- 21q22.3
- HGVS
- NM_000071.3(CBS):c.833T>C (p.Ile278Thr)
- Allele change
- Missense_I278T
Associated conditions / phenotypes
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED|Homocystinuria, pyridoxine-responsive|Classic homocystinuria|Cardiovascular phenotype|Homocystinuria|Intellectual disability|Connective tissue disorder
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.