Variant (rsID / SNP)

rs2271468

rs2271468 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CUBN. Location: chromosome 10, position 16,990,552. Clinical significance in the table: Benign.

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Reference-table entries

CUBNBenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 10:16990552
Cytoband: 10p13
HGVS: NM_001081.4(CUBN):c.5134C>T (p.Leu1712=)
Allele change: Synonymous_L1712L

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.