Variant (rsID / SNP)
rs34307129
rs34307129 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MPZ. Location: chromosome 1, position 161,275,729. Clinical significance in the table: Benign/Likely benign.
Reference-table entries
MPZBenign
- Clinical significance (as recorded)
- Benign/Likely benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 1:161275729
- Cytoband
- 1q23.3
- HGVS
- NM_000530.8(MPZ):c.684C>T (p.Ser228=)
- Allele change
- Synonymous_S228S
Associated conditions / phenotypes
Charcot-Marie-Tooth disease type 4E|Roussy-Lévy syndrome|Charcot-Marie-Tooth disease dominant intermediate D|Charcot-Marie-Tooth disease, type I|Neuropathy, congenital hypomyelinating, 2|Charcot-Marie-Tooth disease type 1B|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.