Variant (rsID / SNP)
rs377767391
rs377767391 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RET. Location: chromosome 10, position 43,609,075. Clinical significance in the table: Likely pathogenic.
Reference-table entries
RETLikely pathogenic
- Clinical significance (as recorded)
- Likely pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 10:43609075
- Cytoband
- 10q11.21
- HGVS
- NM_020975.6(RET):c.1831T>C (p.Cys611Arg)
- Allele change
- Missense_C611S
Associated conditions / phenotypes
Multiple endocrine neoplasia, type 2|Aganglionic megacolon
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.