Variant (rsID / SNP)

rs119483085

rs119483085 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NDRG1. Location: chromosome 8, position 134,270,617. Clinical significance in the table: Pathogenic.

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Reference-table entries

NDRG1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 8:134270617
Cytoband: 8q24.22
HGVS: NM_006096.4(NDRG1):c.442C>T (p.Arg148Ter)
Allele change: Nonsense_R67X

Associated conditions / phenotypes

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

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.