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Variant (rsID / SNP)

rs121964969

CBS

rs121964969 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CBS. Location: chromosome 21, position 44,484,041. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

CBSPathogenic
Clinical significance (as recorded)
Pathogenic/Likely pathogenic
Variant type
single nucleotide variant
Chromosome / position
21:44484041
Cytoband
21q22.3
HGVS
NM_000071.3(CBS):c.797G>A (p.Arg266Lys)
Allele change
Missense_R266K

Associated conditions / phenotypes

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

Public references

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