Variant (rsID / SNP)

rs200641396

rs200641396 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ALK. Location: chromosome 2, position 29,448,366. 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: 2:29448366
Cytoband: 2p23.2
HGVS: NM_004304.5(ALK):c.3133G>A (p.Val1045Met)
Allele change: Missense_V1045M

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.