Variant (rsID / SNP)
rs139950446
rs139950446 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PRX. Location: chromosome 19, position 40,900,557. 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
- 19:40900557
- Cytoband
- 19q13.2
- HGVS
- NM_181882.3(PRX):c.3702C>T (p.Gly1234=)
- Allele change
- Silent
Associated conditions / phenotypes
Charcot-Marie-Tooth disease type 4|Charcot-Marie-Tooth disease type 4F|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.
