Variant (rsID / SNP)

rs150117913

rs150117913 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CUBN. Location: chromosome 10, position 16,960,774. Clinical significance in the table: Uncertain significance.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

CUBNUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 10:16960774
Cytoband: 10p13
HGVS: NM_001081.4(CUBN):c.6847C>T (p.Arg2283Trp)
Allele change: Missense_R2283W

Associated conditions / phenotypes

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.