Variant (rsID / SNP)

rs143845082

rs143845082 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PLD1. Location: chromosome 3, position 171,417,570. Clinical significance in the table: Benign.

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Reference-table entries

PLD1Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 3:171417570
Cytoband: 3q26.31
HGVS: NM_002662.5(PLD1):c.1192C>T (p.Arg398Cys)
Allele change: Missense_R398C

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.