Variant (rsID / SNP)

rs121918608

rs121918608 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to AHCY. Location: chromosome 20, position 32,880,181. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

AHCYPathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 20:32880181
Cytoband: 20q11.22
HGVS: NM_000687.4(AHCY):c.428A>G (p.Tyr143Cys)
Allele change: Missense_Y143C

Associated conditions / phenotypes

Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase|Inborn genetic diseases|Rhabdomyolysis

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.