Variant (rsID / SNP)

rs137998687

rs137998687 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CUBN. Location: chromosome 10, position 16,948,208. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

CUBNConflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 10:16948208
Cytoband: 10p13
HGVS: NM_001081.4(CUBN):c.7906C>T (p.Arg2636Ter)
Allele change: Nonsense_R2636X

Associated conditions / phenotypes

Imerslund-Grasbeck 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.