Variant (rsID / SNP)

rs111265129

rs111265129 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CUBN. Location: chromosome 10, position 16,893,332. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

CUBNBenign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 10:16893332
Cytoband: 10p13
HGVS: NM_001081.4(CUBN):c.9565A>G (p.Ile3189Val)
Allele change: Missense_I3189V

Associated conditions / phenotypes

Imerslund-Grasbeck syndrome type 1|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.