Variant (rsID / SNP)
rs202219507
rs202219507 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ALS2. Location: chromosome 2, position 202,598,100. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
ALS2Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 2:202598100
- Cytoband
- 2q33.1
- HGVS
- NM_020919.4(ALS2):c.2479A>T (p.Thr827Ser)
- Allele change
- Missense_T827S
Associated conditions / phenotypes
Amyotrophic lateral sclerosis type 2, juvenile|ALS2-Related Disorders|Peripheral axonal neuropathy|Infantile-onset ascending hereditary spastic paralysis|Toe walking|Hereditary spastic paraplegia
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.