Variant (rsID / SNP)

rs758386

rs758386 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SLC6A20. Location: chromosome 3, position 45,817,418. 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: 3:45817418
Cytoband: 3p21.31
HGVS: NM_020208.4(SLC6A20):c.417T>C (p.Cys139=)
Allele change: Synonymous_C139C

Associated conditions / phenotypes

Hyperglycinuria

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.