Variant (rsID / SNP)

rs200377377

rs200377377 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ARL6IP1. Location: chromosome 16, position 18,805,924. Clinical significance in the table: Uncertain significance.

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Reference-table entries

ARL6IP1Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 16:18805924
Cytoband: 16p12.3
HGVS: NM_015161.3(ARL6IP1):c.490A>C (p.Ile164Leu)
Allele change: Missense_I164L

Associated conditions / phenotypes

Hereditary spastic paraplegia 61

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.