Variant (rsID / SNP)

rs148917929

rs148917929 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to AMT. Location: chromosome 3, position 49,459,647. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

AMTConflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 3:49459647
Cytoband: 3p21.31
HGVS: NM_000481.4(AMT):c.148G>T (p.Val50Leu)
Allele change: Silent

Associated conditions / phenotypes

Non-ketotic hyperglycinemia

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.