Variant (rsID / SNP)

rs397514712

rs397514712 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ATL1. Location: chromosome 14, position 51,094,873. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

ATL1Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 14:51094873
Cytoband: 14q22.1
HGVS: NM_015915.5(ATL1):c.1244G>A (p.Arg415Gln)
Allele change: Missense_R415Q

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.