Variant (rsID / SNP)

rs202145000

rs202145000 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PDP1. Location: chromosome 8, position 94,935,845. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

PDP1Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 8:94935845
Cytoband: 8q22.1
HGVS: NM_018444.4(PDP1):c.1558A>G (p.Ile520Val)
Allele change: Missense_I520V

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.