Variant (rsID / SNP)

rs139456571

rs139456571 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CBS. Location: chromosome 21, position 44,485,379. Clinical significance in the table: Uncertain significance.

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Reference-table entries

CBSUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 21:44485379
Cytoband: 21q22.3
HGVS: NM_000071.3(CBS):c.670C>T (p.Arg224Cys)
Allele change: Missense_R224C

Associated conditions / phenotypes

Cardiovascular phenotype|Classic homocystinuria

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.