Variant (rsID / SNP)
rs104894080
rs104894080 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GDAP1. Location: chromosome 8, position 75,276,240. Clinical significance in the table: Pathogenic/Likely pathogenic.
Reference-table entries
- Clinical significance (as recorded)
- Pathogenic/Likely pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 8:75276240
- Cytoband
- 8q21.11
- HGVS
- NM_018972.4(GDAP1):c.715C>T (p.Leu239Phe)
- Allele change
- Missense_L130F
Associated conditions / phenotypes
Charcot-Marie-Tooth disease recessive intermediate A|Charcot-Marie-Tooth disease type 4A|Charcot-Marie-Tooth disease axonal type 2K|Polyneuropathy|Peripheral axonal neuropathy|Elevated circulating alkaline phosphatase concentration|Sensory neuropathy|Elevated circulating creatine kinase concentration|Charcot-Marie-Tooth disease|GDAP1-Related Disorders
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.