Variant (rsID / SNP)
rs184506175
rs184506175 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GSS. Location: chromosome 20, position 33,523,448. Clinical significance in the table: Likely benign.
Reference-table entries
GSSLikely benign
- Clinical significance (as recorded)
- Likely benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 20:33523448
- Cytoband
- 20q11.22
- HGVS
- NM_000178.4(GSS):c.768-3C>T
- 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.