Variant (rsID / SNP)

rs200593316

rs200593316 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CUBN. Location: chromosome 10, position 16,957,924. 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: 10:16957924
Cytoband: 10p13
HGVS: NM_001081.4(CUBN):c.7106G>T (p.Gly2369Val)
Allele change: Missense_G2369V

Associated conditions / phenotypes

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.