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Variant (rsID / SNP)

rs121964972

CBS

rs121964972 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CBS. Location: chromosome 21, position 44,480,638. 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
21:44480638
Cytoband
21q22.3
HGVS
NM_000071.3(CBS):c.1058C>T (p.Thr353Met)
Allele change
Missense_T353M

Associated conditions / phenotypes

Homocystinuria, pyridoxine-nonresponsive|Classic homocystinuria|Cardiovascular phenotype|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.