Variant (rsID / SNP)
rs2297950
rs2297950 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CHIT1. Location: chromosome 1, position 203,194,186. Clinical significance in the table: Benign.
Reference-table entries
CHIT1Benign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 1:203194186
- Cytoband
- 1q32.1
- HGVS
- NM_003465.3(CHIT1):c.304G>A (p.Gly102Ser)
- Allele change
- Silent
Associated conditions / phenotypes
Chitotriosidase deficiency
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.