Variant (rsID / SNP)

rs121434430

rs121434430 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CUBN. Location: chromosome 10, position 17,083,159. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

CUBNPathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 10:17083159
Cytoband: 10p13
HGVS: NM_001081.4(CUBN):c.3890C>T (p.Pro1297Leu)
Allele change: Missense_P1297L

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.