Variant (rsID / SNP)
rs145798106
rs145798106 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RET. Location: chromosome 10, position 43,620,379. 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
- 10:43620379
- Cytoband
- 10q11.21
- HGVS
- NM_020975.6(RET):c.2988G>A (p.Pro996_Val997=)
- Allele change
- Synonymous_P996P
Associated conditions / phenotypes
Multiple endocrine neoplasia, type 2|Pheochromocytoma|Hirschsprung disease, susceptibility to, 1|Multiple endocrine neoplasia|Renal hypodysplasia/aplasia 1|Hereditary cancer-predisposing syndrome|Multiple endocrine neoplasia, type 2a|Appendicitis
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.