Variant (rsID / SNP)
rs12117088
rs12117088 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CASQ2. Location: chromosome 1, position 116,283,717. Clinical significance in the table: Likely benign.
Reference-table entries
CASQ2Likely benign
- Clinical significance (as recorded)
- Likely benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 1:116283717
- Cytoband
- 1p13.1
- HGVS
- NM_001232.4(CASQ2):c.320-268G>T
- Allele change
- Silent
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.