Variant (rsID / SNP)

rs115090201

rs115090201 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PRX. Location: chromosome 19, position 40,909,664. Clinical significance in the table: Benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

PRXBenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 19:40909664
Cytoband: 19q13.2
HGVS: NM_181882.3(PRX):c.133C>G (p.Arg45Gly)
Allele change: Missense_R45G

Associated conditions / phenotypes

Charcot-Marie-Tooth disease type 4|Charcot-Marie-Tooth disease|Charcot-Marie-Tooth disease type 4F

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.