Variant (rsID / SNP)
rs114545628
rs114545628 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CHAT. Location: chromosome 10, position 50,870,734. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
CHATConflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 10:50870734
- Cytoband
- 10q11.23
- HGVS
- NM_020549.5(CHAT):c.1883G>A (p.Arg628Gln)
- Allele change
- Missense_R510Q
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.