Variant (rsID / SNP)

rs28938472

rs28938472 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GSS. Location: chromosome 20, position 33,524,779. Clinical significance in the table: Pathogenic.

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Reference-table entries

GSSPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 20:33524779
Cytoband: 20q11.22
HGVS: NM_000178.4(GSS):c.656A>G (p.Asp219Gly)
Allele change: Missense_D219G

Associated conditions / phenotypes

Glutathione synthetase deficiency without 5-oxoprolinuria|Gluthathione synthetase deficiency

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.