Variant (rsID / SNP)

rs117035284

rs117035284 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CUBN. Location: chromosome 10, position 16,911,749. 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: 10:16911749
Cytoband: 10p13
HGVS: NM_001081.4(CUBN):c.9340G>A (p.Gly3114Ser)
Allele change: Missense_G3114S

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.