Variant (rsID / SNP)
rs41279047
rs41279047 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MUSK. Location: chromosome 9, position 113,431,103. Clinical significance in the table: Benign.
Reference-table entries
MUSKBenign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 9:113431103
- Cytoband
- 9q31.3
- HGVS
- NM_005592.4(MUSK):c.-82T>C
- Allele change
- Silent
Associated conditions / phenotypes
Congenital myasthenic syndrome 9
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.