Variant (rsID / SNP)
rs56181542
rs56181542 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ALK. Location: chromosome 2, position 29,416,698. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
ALKConflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 2:29416698
- Cytoband
- 2p23.2
- HGVS
- NM_004304.5(ALK):c.4255G>A (p.Glu1419Lys)
- Allele change
- Missense_E1419K
Associated conditions / phenotypes
Neuroblastoma, susceptibility to, 3|Hereditary cancer-predisposing syndrome
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.