Variant (rsID / SNP)
rs751572082
rs751572082 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RET. Location: chromosome 10, position 43,598,056. Clinical significance in the table: Uncertain significance.
Reference-table entries
RETUncertain significance
- Clinical significance (as recorded)
- Uncertain significance
- Variant type
- single nucleotide variant
- Chromosome / position
- 10:43598056
- Cytoband
- 10q11.21
- HGVS
- NM_020975.6(RET):c.604G>A (p.Val202Met)
- Allele change
- Missense_V202M
Associated conditions / phenotypes
Hereditary cancer-predisposing syndrome|Multiple endocrine neoplasia, type 2|Multiple endocrine neoplasia, type 2b|Multiple endocrine neoplasia, type 2a|Medulloblastoma|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.