Variant (rsID / SNP)
rs1799939
rs1799939 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RET. Location: chromosome 10, position 43,610,119. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
RETConflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 10:43610119
- Cytoband
- 10q11.21
- HGVS
- NM_020975.6(RET):c.2071G>A (p.Gly691Ser)
- Allele change
- Missense_G691S
Associated conditions / phenotypes
Hereditary cancer-predisposing syndrome|Renal hypodysplasia/aplasia 1|Hirschsprung disease, susceptibility to, 1|Pheochromocytoma|Multiple endocrine neoplasia|Multiple endocrine neoplasia, type 2a|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.