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Variant (rsID / SNP)

rs121434346

SLC6A19

rs121434346 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SLC6A19. Location: chromosome 5, position 1,212,453. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

SLC6A19Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
5:1212453
Cytoband
5p15.33
HGVS
NM_001003841.3(SLC6A19):c.517G>A (p.Asp173Asn)
Allele change
Missense_D173N

Associated conditions / phenotypes

Neutral 1 amino acid transport defect|Hyperglycinuria|Iminoglycinuria|Neutral 1 amino acid transport defect|Hyperglycinuria

Public references

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