Variant (rsID / SNP)
rs1880676
rs1880676 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CHAT. Location: chromosome 10, position 50,824,117. Clinical significance in the table: Benign.
Reference-table entries
CHATBenign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 10:50824117
- Cytoband
- 10q11.23
- HGVS
- NM_020549.5(CHAT):c.287-431G>A
- Allele change
- Silent
Associated conditions / phenotypes
Familial infantile myasthenia
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.