Variant (rsID / SNP)

rs118204002

rs118204002 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MAT1A. Location: chromosome 10, position 82,045,273. Clinical significance in the table: Uncertain significance.

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Reference-table entries

MAT1AUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 10:82045273
Cytoband: 10q22.3
HGVS: NM_000429.3(MAT1A):c.164C>A (p.Ala55Asp)
Allele change: Missense_A55D

Associated conditions / phenotypes

Hepatic methionine adenosyltransferase deficiency

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.