Variant (rsID / SNP)
rs377767397
rs377767397 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RET. Location: chromosome 10, position 43,609,076. Clinical significance in the table: Pathogenic.
Reference-table entries
RETPathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 10:43609076
- Cytoband
- 10q11.21
- HGVS
- NM_020975.6(RET):c.1832G>A (p.Cys611Tyr)
- Allele change
- Missense_C611Y
Associated conditions / phenotypes
Multiple endocrine neoplasia, type 2|Hereditary cancer-predisposing syndrome
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.