Variant (rsID / SNP)

rs143276937

rs143276937 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CBL. Location: chromosome 11, position 119,144,685. Clinical significance in the table: Uncertain significance.

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Reference-table entries

CBLUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 11:119144685
Cytoband: 11q23.3
HGVS: NM_005188.4(CBL):c.698A>G (p.Asn233Ser)
Allele change: Missense_N233S

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.