Variant (rsID / SNP)
rs143916398
rs143916398 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ALK. Location: chromosome 2, position 29,541,191. Clinical significance in the table: Benign/Likely benign.
Reference-table entries
ALKBenign
- Clinical significance (as recorded)
- Benign/Likely benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 2:29541191
- Cytoband
- 2p23.2
- HGVS
- NM_004304.5(ALK):c.1626G>C (p.Pro542=)
- Allele change
- Synonymous_P542P
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.