Variant (rsID / SNP)

rs143937661

rs143937661 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RTN2. Location: chromosome 19, position 45,992,677. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

RTN2Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 19:45992677
Cytoband: 19q13.32
HGVS: NM_005619.5(RTN2):c.1168G>A (p.Gly390Ser)
Allele change: Missense_G390S

Associated conditions / phenotypes

Spastic paraplegia, autosomal dominant|Spastic paraplegia|Hereditary spastic paraplegia

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.