Variant (rsID / SNP)

rs104894490

rs104894490 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NIPA1. Location: chromosome 15, position 23,060,816. Clinical significance in the table: Pathogenic.

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Reference-table entries

NIPA1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 15:23060816
Cytoband: 15q11.2
HGVS: NM_144599.5(NIPA1):c.316G>C (p.Gly106Arg)
Allele change: Synonymous_S46S

Associated conditions / phenotypes

Hereditary spastic paraplegia 6

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.