Variant (rsID / SNP)
rs75873440
rs75873440 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RET. Location: chromosome 10, position 43,607,621. Clinical significance in the table: Pathogenic.
Reference-table entries
RETPathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 10:43607621
- Cytoband
- 10q11.21
- HGVS
- NM_020975.6(RET):c.1597G>T (p.Gly533Cys)
- Allele change
- Missense_G533C
Associated conditions / phenotypes
Familial medullary thyroid carcinoma|Multiple endocrine neoplasia, type 2|Hereditary cancer-predisposing syndrome
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.