Variant (rsID / SNP)
rs377767390
rs377767390 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RET. Location: chromosome 10, position 43,607,615. 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
- 10:43607615
- Cytoband
- 10q11.21
- HGVS
- NM_020975.6(RET):c.1591T>C (p.Cys531Arg)
- Allele change
- Missense_C531R
Associated conditions / phenotypes
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.