Variant (rsID / SNP)

rs11263683

rs11263683 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NIPA1. Location: chromosome 15, position 23,052,632. Clinical significance in the table: Benign.

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Reference-table entries

NIPA1Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 15:23052632
Cytoband: 15q11.2
HGVS: NM_144599.5(NIPA1):c.441A>G (p.Thr147=)
Allele change: Missense_Q88R

Associated conditions / phenotypes

Hereditary spastic paraplegia 6|Hereditary 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.