Variant (rsID / SNP)
rs146838520
rs146838520 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RET. Location: chromosome 10, position 43,615,577. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
RETConflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 10:43615577
- Cytoband
- 10q11.21
- HGVS
- NM_020975.6(RET):c.2656C>T (p.Arg886Trp)
- Allele change
- Missense_R886W
Associated conditions / phenotypes
Medullary thyroid carcinoma|Multiple endocrine neoplasia, type 2|Renal hypoplasia/aplasia
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.