Variant (rsID / SNP)

rs864622083

rs864622083 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ATL1. Location: chromosome 14, position 51,094,822. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

ATL1Likely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 14:51094822
Cytoband: 14q22.1
HGVS: NM_015915.5(ATL1):c.1193C>A (p.Ser398Tyr)
Allele change: Missense_S398Y

Associated conditions / phenotypes

Hereditary spastic paraplegia 3A

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.