Variant (rsID / SNP)

rs146205352

rs146205352 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PRX. Location: chromosome 19, position 40,900,421. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

PRXConflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 19:40900421
Cytoband: 19q13.2
HGVS: NM_181882.3(PRX):c.3838G>C (p.Glu1280Gln)
Allele change: Silent

Associated conditions / phenotypes

Charcot-Marie-Tooth disease type 4

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.