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Variant (rsID / SNP)

rs121964970

CBS

rs121964970 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CBS. Location: chromosome 21, position 44,485,755. 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
21:44485755
Cytoband
21q22.3
HGVS
NM_000071.3(CBS):c.502G>A (p.Val168Met)
Allele change
Missense_V168M

Associated conditions / phenotypes

Homocystinuria, pyridoxine-responsive|Cardiovascular phenotype|Classic homocystinuria|HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED|Homocystinuria

Public references

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