Variant (rsID / SNP)

rs200868013

rs200868013 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ALK. Location: chromosome 2, position 30,142,929. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

ALKBenign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 2:30142929
Cytoband: 2p23.1
HGVS: NM_004304.5(ALK):c.597C>T (p.Gly199=)
Allele change: Synonymous_G199G

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.