Variant (rsID / SNP)
rs3740165
rs3740165 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CUBN. Location: chromosome 10, position 16,949,550. Clinical significance in the table: Benign.
Reference-table entries
CUBNBenign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 10:16949550
- Cytoband
- 10p13
- HGVS
- NM_001081.4(CUBN):c.7662A>G (p.Pro2554=)
- Allele change
- Synonymous_P2554P
Associated conditions / phenotypes
Imerslund-Grasbeck syndrome type 1|Imerslund-Grasbeck syndrome
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.
