Variant (rsID / SNP)

rs199818530

rs199818530 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NIPA1. Location: chromosome 15, position 23,060,841. Clinical significance in the table: Likely benign.

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Reference-table entries

NIPA1Likely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 15:23060841
Cytoband: 15q11.2
HGVS: NM_144599.5(NIPA1):c.291C>G (p.Pro97=)
Allele change: Missense_P38R

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.