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Variant (rsID / SNP)

rs199948079

CBS

rs199948079 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CBS. Location: chromosome 21, position 44,492,142. 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
21:44492142
Cytoband
21q22.3
HGVS
NM_000071.3(CBS):c.162G>A (p.Trp54Ter)
Allele change
Nonsense_W54X

Associated conditions / phenotypes

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.