Variant (rsID / SNP)
rs118003416
rs118003416 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PRX. Location: chromosome 19, position 40,902,295. Clinical significance in the table: Benign/Likely benign.
Reference-table entries
PRXBenign
- Clinical significance (as recorded)
- Benign/Likely benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 19:40902295
- Cytoband
- 19q13.2
- HGVS
- NM_181882.3(PRX):c.1964C>T (p.Pro655Leu)
- Allele change
- Silent
Associated conditions / phenotypes
Charcot-Marie-Tooth disease type 4|Charcot-Marie-Tooth disease|Charcot-Marie-Tooth disease type 4F
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.
