Variant (rsID / SNP)
rs79658334
rs79658334 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RET. Location: chromosome 10, position 43,614,996. Clinical significance in the table: Pathogenic/Likely pathogenic.
Reference-table entries
RETPathogenic
- Clinical significance (as recorded)
- Pathogenic/Likely pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 10:43614996
- Cytoband
- 10q11.21
- HGVS
- NM_020975.6(RET):c.2410G>A (p.Val804Met)
- Allele change
- Missense_V804M
Associated conditions / phenotypes
Multiple endocrine neoplasia, type 2|Hereditary cancer-predisposing syndrome|Multiple endocrine neoplasia, type 2a|7 conditions|MEN2 phenotype: Unclassified|Familial medullary thyroid carcinoma
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.