Variant (rsID / SNP)

rs864622520

rs864622520 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ATL1. Location: chromosome 14, position 51,081,124. Clinical significance in the table: Pathogenic/Likely pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

ATL1Pathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 14:51081124
Cytoband: 14q22.1
HGVS: NM_015915.5(ATL1):c.757G>A (p.Val253Ile)
Allele change: Missense_V253I

Associated conditions / phenotypes

Hereditary spastic paraplegia 3A|Hereditary spastic paraplegia

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.