Variant (rsID / SNP)

rs121918031

rs121918031 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PLG. Location: chromosome 6, position 161,159,615. Clinical significance in the table: Pathogenic.

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Reference-table entries

PLGPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 6:161159615
Cytoband: 6q26
HGVS: NM_000301.5(PLG):c.1848G>A (p.Trp616Ter)
Allele change: Nonsense_W616X

Associated conditions / phenotypes

Plasminogen deficiency, type I

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.