Variant (rsID / SNP)
rs377225752
rs377225752 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NDRG1. Location: chromosome 8, position 134,262,718. 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
- 8:134262718
- Cytoband
- 8q24.22
- HGVS
- NM_006096.4(NDRG1):c.663C>T (p.Pro221=)
- Allele change
- Synonymous_P140P
Associated conditions / phenotypes
Charcot-Marie-Tooth disease type 4|Charcot-Marie-Tooth disease type 4D
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.
