Variant (rsID / SNP)
rs121908680
rs121908680 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PLA2G6. Location: chromosome 22, position 38,508,219. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 22:38508219
- Cytoband
- 22q13.1
- HGVS
- NM_003560.4(PLA2G6):c.2370T>G (p.Tyr790Ter)
- Allele change
- Nonsense_Y564X
Associated conditions / phenotypes
Infantile neuroaxonal dystrophy|Iron accumulation in brain|Inborn genetic diseases|PLA2G6-associated neurodegeneration|Autosomal recessive Parkinson disease 14|Infantile neuroaxonal dystrophy|Neurodegeneration with brain iron accumulation 2B|Autism|Seizure|Neurodegeneration with brain iron accumulation 2B|Abnormality of the nervous system|Neurodegeneration with brain iron accumulation
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.