Variant (rsID / SNP)
rs576806329
rs576806329 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RET. Location: chromosome 10, position 43,600,467. 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
- 10:43600467
- Cytoband
- 10q11.21
- HGVS
- NM_020975.6(RET):c.693C>T (p.Arg231_Glu232=)
- Allele change
- Synonymous_R231R
Associated conditions / phenotypes
Hirschsprung Disease, Dominant|Renal hypodysplasia/aplasia 1|Multiple endocrine neoplasia|Pheochromocytoma|Multiple endocrine neoplasia, type 2a|Multiple endocrine neoplasia, type 2b|Hereditary cancer-predisposing syndrome|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.