Variant (rsID / SNP)

rs17279437

rs17279437 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SLC6A20. Location: chromosome 3, position 45,814,094. Clinical significance in the table: Benign.

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Reference-table entries

SLC6A20Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 3:45814094
Cytoband: 3p21.31
HGVS: NM_020208.4(SLC6A20):c.596C>T (p.Thr199Met)
Allele change: Silent

Associated conditions / phenotypes

Hyperglycinuria|Iminoglycinuria, digenic

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.