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Variant (rsID / SNP)

rs104894714

PRX

rs104894714 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PRX. Location: chromosome 19, position 40,901,402. Clinical significance in the table: Pathogenic.

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Reference-table entries

PRXPathogenic
Clinical significance (as recorded)
Pathogenic
Variant type
single nucleotide variant
Chromosome / position
19:40901402
Cytoband
19q13.2
HGVS
NM_181882.3(PRX):c.2857C>T (p.Arg953Ter)
Allele change
Silent

Associated conditions / phenotypes

Autosomal recessive Dejerine-Sottas syndrome|Charcot-Marie-Tooth disease type 4F|Charcot-Marie-Tooth disease type 4|Charcot-Marie-Tooth disease

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.