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Variant (rsID / SNP)

rs139372534

NIPA1

rs139372534 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NIPA1. Location: chromosome 15, position 23,060,820. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

NIPA1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
15:23060820
Cytoband
15q11.2
HGVS
NM_144599.5(NIPA1):c.312G>A (p.Pro104=)
Allele change
Missense_R45H

Associated conditions / phenotypes

Hereditary spastic paraplegia 6|Hereditary spastic paraplegia

Public references

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