Variant (rsID / SNP)

rs144437923

rs144437923 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ALK. Location: chromosome 2, position 29,443,584. Clinical significance in the table: Likely benign.

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Reference-table entries

ALKLikely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 2:29443584
Cytoband: 2p23.2
HGVS: NM_004304.5(ALK):c.3633C>A (p.Thr1211=)
Allele change: Synonymous_T1211T

Associated conditions / phenotypes

Neuroblastoma, susceptibility to, 3|Hereditary cancer-predisposing syndrome

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.