Variant (rsID / SNP)
rs193922700
rs193922700 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RET. Location: chromosome 10, position 43,610,128. 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
- 10:43610128
- Cytoband
- 10q11.21
- HGVS
- NM_020975.6(RET):c.2080C>T (p.Arg694Trp)
- Allele change
- Missense_R694W
Associated conditions / phenotypes
Multiple endocrine neoplasia, type 2a|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.