Variant (rsID / SNP)

rs781567152

rs781567152 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CBS. Location: chromosome 21, position 44,482,501. 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: 21:44482501
Cytoband: 21q22.3
HGVS: NM_000071.3(CBS):c.959T>C (p.Val320Ala)
Allele change: Missense_V320A

Associated conditions / phenotypes

Classic homocystinuria|Homocystinuria|HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED

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.