Variant (rsID / SNP)
rs121908681
rs121908681 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PLA2G6. Location: chromosome 22, position 38,516,874. Clinical significance in the table: Pathogenic.
Reference-table entries
PLA2G6Pathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 22:38516874
- Cytoband
- 22q13.1
- HGVS
- NM_003560.4(PLA2G6):c.1634A>C (p.Lys545Thr)
- Allele change
- Missense_K319T
Associated conditions / phenotypes
Neurodegeneration with brain iron accumulation 2B|Developmental regression|Congenital cerebellar hypoplasia|Cerebellar ataxia|Global developmental delay|Microcephaly|Autosomal recessive Parkinson disease 14
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.