Variant (rsID / SNP)
rs199718928
rs199718928 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RET. Location: chromosome 10, position 43,620,373. 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
- 10:43620373
- Cytoband
- 10q11.21
- HGVS
- NM_020975.6(RET):c.2982A>C (p.Lys994Asn)
- Allele change
- Missense_K994N
Associated conditions / phenotypes
Multiple endocrine neoplasia, type 2a|Multiple endocrine neoplasia, type 2b|Multiple endocrine neoplasia, type 2|Hereditary cancer-predisposing syndrome|6 conditions|Multiple endocrine neoplasia|Pheochromocytoma|Renal hypodysplasia/aplasia 1|Hirschsprung disease, susceptibility to, 1
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.