Variant (rsID / SNP)

rs138543631

rs138543631 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ARSI. Location: chromosome 5, position 149,676,985. Clinical significance in the table: Uncertain significance.

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Reference-table entries

ARSIUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 5:149676985
Cytoband: 5q32
HGVS: NM_001012301.4(ARSI):c.1502C>T (p.Pro501Leu)
Allele change: Missense_P501L

Associated conditions / phenotypes

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.