Variant (rsID / SNP)

rs121964962

rs121964962 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CBS. Location: chromosome 21, position 44,483,098. Clinical significance in the table: Pathogenic.

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Reference-table entries

CBSPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 21:44483098
Cytoband: 21q22.3
HGVS: NM_000071.3(CBS):c.919G>A (p.Gly307Ser)
Allele change: Missense_G307S

Associated conditions / phenotypes

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

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.