Variant (rsID / SNP)

rs140002610

rs140002610 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CBS. Location: chromosome 21, position 44,486,410. Clinical significance in the table: Uncertain significance.

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Reference-table entries

CBSUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 21:44486410
Cytoband: 21q22.3
HGVS: NM_000071.3(CBS):c.394C>T (p.Arg132Cys)
Allele change: Missense_R132C

Associated conditions / phenotypes

Classic homocystinuria|Cardiovascular phenotype|Intellectual disability

Public references

dbSNP
ClinVar
Ensembl
gnomAD

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