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Variant (rsID / SNP)

rs146398746

SPART

rs146398746 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SPART. Location: chromosome 13, position 36,909,607. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

SPARTConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
13:36909607
Cytoband
13q13.3
HGVS
NM_015087.5(SPART):c.361G>T (p.Asp121Tyr)
Allele change
Missense_D121Y

Associated conditions / phenotypes

Troyer syndrome|Hereditary spastic paraplegia

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.