Variant (rsID / SNP)
rs147968123
rs147968123 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RIN2. Location: chromosome 20, position 19,937,447. Clinical significance in the table: Benign.
Reference-table entries
RIN2Benign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 20:19937447
- Cytoband
- 20p11.23
- HGVS
- NM_018993.4(RIN2):c.347C>T (p.Pro116Leu)
- Allele change
- Missense_P165L
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.