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Variant (rsID / SNP)

rs74716434

ALK

rs74716434 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ALK. Location: chromosome 2, position 29,430,136. 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
2:29430136
Cytoband
2p23.2
HGVS
NM_004304.5(ALK):c.3839C>T (p.Ala1280Val)
Allele change
Missense_A1280V

Associated conditions / phenotypes

Neuroblastoma Susceptibility|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.