Variant (rsID / SNP)

rs74844886

rs74844886 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CUBN. Location: chromosome 10, position 16,970,164. Clinical significance in the table: Uncertain significance.

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Reference-table entries

CUBNUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 10:16970164
Cytoband: 10p13
HGVS: NM_001081.4(CUBN):c.6263T>C (p.Phe2088Ser)
Allele change: Missense_F2088S

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.