Variant (rsID / SNP)
rs77558292
rs77558292 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RET. Location: chromosome 10, position 43,609,069. Clinical significance in the table: Pathogenic.
Reference-table entries
RETPathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 10:43609069
- Cytoband
- 10q11.21
- HGVS
- NM_020975.6(RET):c.1825T>C (p.Cys609Arg)
- Allele change
- Missense_C609R
Associated conditions / phenotypes
Familial medullary thyroid carcinoma|Aganglionic megacolon|Hereditary cancer-predisposing syndrome|Multiple endocrine neoplasia, type 2
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.