Variant (rsID / SNP)
rs2233328
rs2233328 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NDRG1. Location: chromosome 8, position 134,271,469. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
NDRG1Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 8:134271469
- Cytoband
- 8q24.22
- HGVS
- NM_006096.4(NDRG1):c.331A>C (p.Met111Leu)
- Allele change
- Missense_M30L
Associated conditions / phenotypes
Charcot-Marie-Tooth disease type 4|Charcot-Marie-Tooth disease type 4D|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.