Variant (rsID / SNP)

rs763036586

rs763036586 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CBS. Location: chromosome 21, position 44,480,560. 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: 21:44480560
Cytoband: 21q22.3
HGVS: NM_000071.3(CBS):c.1136G>A (p.Arg379Gln)
Allele change: Missense_R379Q

Associated conditions / phenotypes

Classic homocystinuria

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.