Variant (rsID / SNP)

rs117620008

rs117620008 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CUBN. Location: chromosome 10, position 16,930,427. 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: 10:16930427
Cytoband: 10p13
HGVS: NM_001081.4(CUBN):c.8894T>C (p.Phe2965Ser)
Allele change: Missense_F2965S

Associated conditions / phenotypes

Imerslund-Grasbeck syndrome|Imerslund-Grasbeck syndrome type 1

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.