Variant (rsID / SNP)
rs80069458
rs80069458 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RET. Location: chromosome 10, position 43,609,077. Clinical significance in the table: Pathogenic.
Reference-table entries
RETPathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 10:43609077
- Cytoband
- 10q11.21
- HGVS
- NM_020975.6(RET):c.1833C>G (p.Cys611Trp)
- Allele change
- Missense_C611W
Associated conditions / phenotypes
Multiple endocrine neoplasia, type 2a
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.