Gene entry
PRX
periaxin
- Chromosome
- 19
- Cytoband
- 19q13.2
- Variants (rsID)
- 25
PRX is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 19 (region 19q13.2). Its official name is “periaxin”. The reference table lists 25 variants (rsID) for this gene.
Clinically classified variants
21 reference-table entries with clinical significance.
- rs115090201Benignsingle nucleotide variantCharcot-Marie-Tooth disease type 4|Charcot-Marie-Tooth disease|Charcot-Marie-Tooth disease type 4F
- rs118003416Benignsingle nucleotide variantCharcot-Marie-Tooth disease type 4|Charcot-Marie-Tooth disease|Charcot-Marie-Tooth disease type 4F
- rs139950446Benignsingle nucleotide variantCharcot-Marie-Tooth disease type 4|Charcot-Marie-Tooth disease type 4F|Charcot-Marie-Tooth disease
- rs3745202Benignsingle nucleotide variantCharcot-Marie-Tooth disease type 4|Charcot-Marie-Tooth disease type 4F|Charcot-Marie-Tooth disease
- rs61733451Benignsingle nucleotide variantCharcot-Marie-Tooth disease type 4|Charcot-Marie-Tooth disease type 4F|Charcot-Marie-Tooth disease
- rs117336941Conflicting interpretationssingle nucleotide variantCharcot-Marie-Tooth disease type 4F|Charcot-Marie-Tooth disease type 4|Charcot-Marie-Tooth disease
- rs139188673Conflicting interpretationssingle nucleotide variantCharcot-Marie-Tooth disease type 4|Charcot-Marie-Tooth disease type 4F|Charcot-Marie-Tooth disease|Toe walking
- rs141686828Conflicting interpretationssingle nucleotide variantCharcot-Marie-Tooth disease type 4|Charcot-Marie-Tooth disease type 4F|Charcot-Marie-Tooth disease
- rs142436391Conflicting interpretationssingle nucleotide variantCharcot-Marie-Tooth disease type 4|Charcot-Marie-Tooth disease
- rs142762689Conflicting interpretationssingle nucleotide variantCharcot-Marie-Tooth disease type 4|Charcot-Marie-Tooth disease|Charcot-Marie-Tooth disease type 4F
- rs146061247Conflicting interpretationssingle nucleotide variantCharcot-Marie-Tooth disease type 4|Charcot-Marie-Tooth disease type 4F|Charcot-Marie-Tooth disease
- rs146205352Conflicting interpretationssingle nucleotide variantCharcot-Marie-Tooth disease type 4
- rs147587689Conflicting interpretationssingle nucleotide variantCharcot-Marie-Tooth disease type 4|Charcot-Marie-Tooth disease type 4F|Charcot-Marie-Tooth disease
- rs149715830Conflicting interpretationssingle nucleotide variantCharcot-Marie-Tooth disease type 4|Charcot-Marie-Tooth disease|Charcot-Marie-Tooth disease type 4F
- rs376174896Conflicting interpretationssingle nucleotide variantCharcot-Marie-Tooth disease type 4F|Charcot-Marie-Tooth disease type 4
- rs777104457Conflicting interpretationssingle nucleotide variantCharcot-Marie-Tooth disease type 4|Charcot-Marie-Tooth disease|Charcot-Marie-Tooth disease type 4F
- rs780315081Conflicting interpretationssingle nucleotide variantCharcot-Marie-Tooth disease type 4|Charcot-Marie-Tooth disease
- rs104894707Pathogenicsingle nucleotide variantCharcot-Marie-Tooth disease type 4F|Charcot-Marie-Tooth disease type 4|Charcot-Marie-Tooth disease
- rs104894708Pathogenicsingle nucleotide variantDejerine-Sottas disease|Charcot-Marie-Tooth disease type 4F|Charcot-Marie-Tooth disease type 4
- rs104894714Pathogenicsingle nucleotide variantAutosomal recessive Dejerine-Sottas syndrome|Charcot-Marie-Tooth disease type 4F|Charcot-Marie-Tooth disease type 4|Charcot-Marie-Tooth disease
- rs200835105Uncertain significancesingle nucleotide variantCharcot-Marie-Tooth disease type 4
Other listed variants
Public references
Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.
