Variant (rsID / SNP)

rs730880427

rs730880427 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CBL. Location: chromosome 11, position 119,156,164. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

CBLConflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 11:119156164
Cytoband: 11q23.3
HGVS: NM_005188.4(CBL):c.1829C>A (p.Thr610Lys)
Allele change: Missense_T610K

Associated conditions / phenotypes

CBL-related disorder

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.