Variant (rsID / SNP)

rs118204003

rs118204003 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MAT1A. Location: chromosome 10, position 82,034,291. Clinical significance in the table: Pathogenic.

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Reference-table entries

MAT1APathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 10:82034291
Cytoband: 10q22.3
HGVS: NM_000429.3(MAT1A):c.1070C>T (p.Pro357Leu)
Allele change: Missense_P357L

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.