Variant (rsID / SNP)

rs150066229

rs150066229 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to AHCY. Location: chromosome 20, position 32,873,413. Clinical significance in the table: Uncertain significance.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

AHCYUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 20:32873413
Cytoband: 20q11.22
HGVS: NM_000687.4(AHCY):c.1000C>T (p.Arg334Cys)
Allele change: Missense_R334C

Associated conditions / phenotypes

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.