Variant (rsID / SNP)
rs74799832
rs74799832 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RET. Location: chromosome 10, position 43,617,416. Clinical significance in the table: Pathogenic/Likely pathogenic.
Reference-table entries
- Clinical significance (as recorded)
- Pathogenic/Likely pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 10:43617416
- Cytoband
- 10q11.21
- HGVS
- NM_020975.6(RET):c.2753T>C (p.Met918Thr)
- Allele change
- Missense_M918T
Associated conditions / phenotypes
Thyroid carcinoma, sporadic medullary|Pheochromocytoma|Multiple endocrine neoplasia, type 2b|Multiple endocrine neoplasia, type 2|Multiple endocrine neoplasia, type 2a|Medullary thyroid carcinoma|8 conditions|Multiple endocrine neoplasia, type 1|Thyroid tumor|Multiple endocrine neoplasia type 4|Inborn genetic diseases|Familial medullary thyroid carcinoma|Hirschsprung disease, susceptibility to, 1|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.