Variant (rsID / SNP)

rs116771294

rs116771294 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ZMPSTE24. Location: chromosome 1, position 40,758,225. The table records no clinical significance for this variant.

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Reference-table entries

ZMPSTE24Not classified

Variant type: single nucleotide variant
Chromosome / position: 1:40758225
Cytoband: 1p34.2
HGVS: NM_005857.5(ZMPSTE24):c.1312C>T (p.Leu438Phe)
Allele change: Missense_L438F

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.