Variant (rsID / SNP)
rs77724903
rs77724903 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RET. Location: chromosome 10, position 43,613,908. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 10:43613908
- Cytoband
- 10q11.21
- HGVS
- NM_020975.6(RET):c.2372A>T (p.Tyr791Phe)
- Allele change
- Missense_Y791F
Associated conditions / phenotypes
Familial medullary thyroid carcinoma|Pheochromocytoma|Hereditary cancer-predisposing syndrome|Aganglionic megacolon|Hirschsprung disease, susceptibility to, 1|Multiple endocrine neoplasia|Renal hypodysplasia/aplasia 1|Medullary thyroid carcinoma|Multiple endocrine neoplasia, type 2b|Multiple endocrine neoplasia type 4|Multiple endocrine neoplasia, type 1|Multiple endocrine neoplasia, type 2a|Familial cancer of breast|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.