Variant (rsID / SNP)
rs769217
rs769217 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CAT. Location: chromosome 11, position 34,482,908. Clinical significance in the table: Benign.
Reference-table entries
CATBenign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 11:34482908
- Cytoband
- 11p13
- HGVS
- NM_001752.4(CAT):c.1167C>T (p.Asp389=)
- Allele change
- Synonymous_D389D
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.
