Variant (rsID / SNP)
rs587784359
rs587784359 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PLA2G6. Location: chromosome 22, position 38,536,113. Clinical significance in the table: Pathogenic/Likely pathogenic.
Reference-table entries
PLA2G6Pathogenic
- Clinical significance (as recorded)
- Pathogenic/Likely pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 22:38536113
- Cytoband
- 22q13.1
- HGVS
- NM_003560.4(PLA2G6):c.673C>T (p.His225Tyr)
- Allele change
- Silent
Associated conditions / phenotypes
Iron accumulation in brain|Infantile neuroaxonal dystrophy
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.