Variant (rsID / SNP)

rs234706

rs234706 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CBS. Location: chromosome 21, position 44,485,350. Clinical significance in the table: Benign.

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Reference-table entries

CBSBenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 21:44485350
Cytoband: 21q22.3
HGVS: NM_000071.3(CBS):c.699C>T (p.Tyr233=)
Allele change: Synonymous_Y233Y

Associated conditions / phenotypes

Cardiovascular phenotype|Classic homocystinuria|Connective tissue disorder|HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.