Variant (rsID / SNP)
rs104894078
rs104894078 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GDAP1. Location: chromosome 8, position 75,272,419. Clinical significance in the table: Pathogenic.
Reference-table entries
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 8:75272419
- Cytoband
- 8q21.11
- HGVS
- NM_018972.4(GDAP1):c.358C>T (p.Arg120Trp)
- Allele change
- Missense_R11W
Associated conditions / phenotypes
Charcot-Marie-Tooth disease axonal type 2K|Charcot-Marie-Tooth disease|Charcot-Marie-Tooth disease type 4A|Charcot-Marie-Tooth disease recessive intermediate A|Charcot-Marie-Tooth disease axonal type 2K|Charcot-Marie-Tooth disease type 4A|Charcot-Marie-Tooth disease recessive intermediate A|Charcot-Marie-Tooth disease axonal type 2K|Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive|Charcot-Marie-Tooth disease type 4A
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.