Variant (rsID / SNP)
rs145122337
rs145122337 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RET. Location: chromosome 10, position 43,610,100. 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
- 10:43610100
- Cytoband
- 10q11.21
- HGVS
- NM_020975.6(RET):c.2052G>A (p.Pro684_Val685=)
- Allele change
- Synonymous_P684P
Associated conditions / phenotypes
Multiple endocrine neoplasia|Pheochromocytoma|Renal hypodysplasia/aplasia 1|Hirschsprung disease, susceptibility to, 1|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.