Variant (rsID / SNP)

rs386833787

rs386833787 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CUBN. Location: chromosome 10, position 17,061,832. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

CUBNLikely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 10:17061832
Cytoband: 10p13
HGVS: NM_001081.4(CUBN):c.4168G>A (p.Gly1390Ser)
Allele change: Missense_G1390S

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.