Variant (rsID / SNP)

rs37369

rs37369 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to AGXT2. Location: chromosome 5, position 35,037,115. Clinical significance in the table: Affects.

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Reference-table entries

AGXT2Other

Clinical significance (as recorded): Affects
Variant type: single nucleotide variant
Chromosome / position: 5:35037115
Cytoband: 5p13.2
HGVS: NM_031900.4(AGXT2):c.418G>A (p.Val140Ile)
Allele change: Missense_V140I

Associated conditions / phenotypes

Beta-aminoisobutyric acid, urinary excretion of

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.