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Variant (rsID / SNP)

rs116528173

MAT1A

rs116528173 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MAT1A. Location: chromosome 10, position 82,036,188. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

MAT1AConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
10:82036188
Cytoband
10q22.3
HGVS
NM_000429.3(MAT1A):c.712G>A (p.Glu238Lys)
Allele change
Missense_E238K

Associated conditions / phenotypes

Hepatic methionine adenosyltransferase deficiency

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.