Variant (rsID / SNP)
rs149712244
rs149712244 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PLA2G6. Location: chromosome 22, position 38,512,162. 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
- 22:38512162
- Cytoband
- 22q13.1
- HGVS
- NM_003560.4(PLA2G6):c.1799G>A (p.Arg600Gln)
- Allele change
- Missense_R374Q
Associated conditions / phenotypes
Iron accumulation in brain|Neurodegeneration with brain iron accumulation 2B|Inborn genetic diseases|Infantile neuroaxonal dystrophy
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.