Variant (rsID / SNP)

rs819146

rs819146 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to AHCY. Location: chromosome 20, position 32,891,200. Clinical significance in the table: Benign.

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Reference-table entries

AHCYBenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 20:32891200
Cytoband: 20q11.22
HGVS: NM_000687.3(AHCY):c.-124C>A
Allele change: Silent

Associated conditions / phenotypes

Hypermethioninemia|Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase

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.