Variant (rsID / SNP)
rs1060500978
rs1060500978 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GDAP1. Location: chromosome 8, position 75,276,308. Clinical significance in the table: Pathogenic/Likely pathogenic.
Reference-table entries
GDAP1Pathogenic
- Clinical significance (as recorded)
- Pathogenic/Likely pathogenic
- Variant type
- Deletion
- Chromosome / position
- 8:75276308
- Cytoband
- 8q21.11
- HGVS
- NM_018972.4(GDAP1):c.786del (p.Phe263fs)
Associated conditions / phenotypes
Charcot-Marie-Tooth disease type 4A|Charcot-Marie-Tooth disease|Charcot-Marie-Tooth disease recessive intermediate A
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.