Variant (rsID / SNP)

rs119476050

rs119476050 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ATL1. Location: chromosome 14, position 51,094,872. 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: 14:51094872
Cytoband: 14q22.1
HGVS: NM_015915.5(ATL1):c.1243C>T (p.Arg415Trp)
Allele change: Missense_R415W

Associated conditions / phenotypes

Hereditary spastic paraplegia 3A|Inborn genetic diseases

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.