Variant (rsID / SNP)

rs80227749

rs80227749 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ALK. Location: chromosome 2, position 29,456,502. Clinical significance in the table: Uncertain significance.

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Reference-table entries

ALKUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 2:29456502
Cytoband: 2p23.2
HGVS: NM_004304.5(ALK):c.2416C>T (p.Arg806Cys)
Allele change: Missense_R806C

Associated conditions / phenotypes

Neuroblastoma, susceptibility to, 3

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.