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Variant (rsID / SNP)

rs147858673

ALK

rs147858673 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ALK. Location: chromosome 2, position 29,474,026. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

ALKConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
2:29474026
Cytoband
2p23.2
HGVS
NM_004304.5(ALK):c.2149G>A (p.Glu717Lys)
Allele change
Missense_E717K

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.