Variant (rsID / SNP)
rs145171629
rs145171629 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NLRP12. Location: chromosome 19, position 54,314,055. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
NLRP12Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 19:54314055
- Cytoband
- 19q13.42
- HGVS
- NM_144687.4(NLRP12):c.858C>G (p.Pro286=)
- Allele change
- Synonymous_P286P
Associated conditions / phenotypes
Childhood-Onset Schizophrenia|Familial cold autoinflammatory syndrome 2
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.
