Variant (rsID / SNP)

rs148865119

rs148865119 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CBS. Location: chromosome 21, position 44,492,158. 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: 21:44492158
Cytoband: 21q22.3
HGVS: NM_000071.3(CBS):c.146C>T (p.Pro49Leu)
Allele change: Missense_P49L

Associated conditions / phenotypes

Cardiovascular phenotype|Classic 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.