Variant (rsID / SNP)

rs61751009

rs61751009 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ZMPSTE24. Location: chromosome 1, position 40,758,116. Clinical significance in the table: Pathogenic.

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Reference-table entries

ZMPSTE24Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 1:40758116
Cytoband: 1p34.2
HGVS: NM_005857.5(ZMPSTE24):c.1204-1G>A
Allele change: Silent

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.