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Variant (rsID / SNP)

rs117687681

CBS

rs117687681 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CBS. Location: chromosome 21, position 44,480,591. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

CBSConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
21:44480591
Cytoband
21q22.3
HGVS
NM_000071.3(CBS):c.1105C>T (p.Arg369Cys)
Allele change
Missense_R369C

Associated conditions / phenotypes

Classic homocystinuria|Cardiovascular phenotype|Connective tissue disorder

Public references

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