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Variant (rsID / SNP)

rs113994091

ALK

rs113994091 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ALK. Location: chromosome 2, position 29,445,273. 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
2:29445273
Cytoband
2p23.2
HGVS
NM_004304.5(ALK):c.3452C>T (p.Thr1151Met)
Allele change
Missense_T1151M

Associated conditions / phenotypes

Neuroblastoma, susceptibility to, 3|Neuroblastoma|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.