Variant (rsID / SNP)

rs28936396

rs28936396 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GSS. Location: chromosome 20, position 33,530,409. 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: 20:33530409
Cytoband: 20q11.22
HGVS: NM_000178.4(GSS):c.373C>T (p.Arg125Cys)
Allele change: Missense_R125C

Associated conditions / phenotypes

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.