Variant (rsID / SNP)

rs114255772

rs114255772 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SPG7. Location: chromosome 16, position 89,592,774. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

SPG7Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 16:89592774
Cytoband: 16q24.3
HGVS: NM_003119.4(SPG7):c.656T>C (p.Ile219Thr)
Allele change: Missense_I219T

Associated conditions / phenotypes

Hereditary spastic paraplegia 7

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.