Variant (rsID / SNP)
rs886056642
rs886056642 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GSS. Location: chromosome 20, position 33,543,567. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
GSSConflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 20:33543567
- Cytoband
- 20q11.22
- HGVS
- NM_000178.4(GSS):c.-46A>G
- Allele change
- Silent
Associated conditions / phenotypes
Gluthathione synthetase deficiency
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.