Variant (rsID / SNP)
rs77709286
rs77709286 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RET. Location: chromosome 10, position 43,609,950. Clinical significance in the table: Pathogenic.
Reference-table entries
RETPathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 10:43609950
- Cytoband
- 10q11.21
- HGVS
- NM_020975.6(RET):c.1902C>G (p.Cys634Trp)
- Allele change
- Missense_C634W
Associated conditions / phenotypes
Multiple endocrine neoplasia, type 2a|Pheochromocytoma|Multiple endocrine neoplasia type 4|Multiple endocrine neoplasia, type 2b|Thyroid tumor|Multiple endocrine neoplasia, type 1|Multiple endocrine neoplasia, type 2|Medullary thyroid carcinoma|Hereditary cancer-predisposing syndrome
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.