Variant (rsID / SNP)
rs370736139
rs370736139 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RET. Location: chromosome 10, position 43,597,991. 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
- 10:43597991
- Cytoband
- 10q11.21
- HGVS
- NM_020975.6(RET):c.539G>A (p.Arg180Gln)
- Allele change
- Missense_R180Q
Associated conditions / phenotypes
Aganglionic megacolon|Multiple endocrine neoplasia, type 2|Multiple endocrine neoplasia, type 2b|Multiple endocrine neoplasia, type 2a|Hereditary cancer-predisposing syndrome|Familial medullary thyroid carcinoma
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.