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Variant (rsID / SNP)

rs119476046

ATL1

rs119476046 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ATL1. Location: chromosome 14, position 51,080,061. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

ATL1Pathogenic
Clinical significance (as recorded)
Pathogenic/Likely pathogenic
Variant type
single nucleotide variant
Chromosome / position
14:51080061
Cytoband
14q22.1
HGVS
NM_015915.5(ATL1):c.715C>T (p.Arg239Cys)
Allele change
Missense_R239C

Associated conditions / phenotypes

Hereditary spastic paraplegia 3A|Neuropathy, hereditary sensory, type 1D|Hereditary spastic paraplegia 3A|Spastic paraplegia|Hereditary spastic paraplegia

Public references

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