Variant (rsID / SNP)
rs553418132
rs553418132 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RET. Location: chromosome 10, position 43,615,004. Clinical significance in the table: Pathogenic.
Reference-table entries
RETPathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 10:43615004
- Cytoband
- 10q11.21
- HGVS
- NM_020975.6(RET):c.2418C>G (p.Tyr806Ter)
- Allele change
- Nonsense_Y806X
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.