Variant (rsID / SNP)
rs555217187
rs555217187 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TRIM32. Location: chromosome 9, position 119,461,731. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
TRIM32Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 9:119461731
- Cytoband
- 9q33.1
- HGVS
- NM_012210.4(TRIM32):c.1710G>A (p.Ser570=)
- Allele change
- Silent
Associated conditions / phenotypes
Bardet-Biedl syndrome
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.