Variant (rsID / SNP)
rs513131
rs513131 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CASP12. Location: chromosome 11, position 104,761,100. Clinical significance in the table: Benign.
Reference-table entries
CASP12Benign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 11:104761100
- Cytoband
- 11q22.3
- HGVS
- NM_001191016.2(CASP12):c.817+1A>G
- Allele change
- Missense_H273R
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.