Variant (rsID / SNP)
rs75234356
rs75234356 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RET. Location: chromosome 10, position 43,615,592. Clinical significance in the table: Pathogenic.
Reference-table entries
RETPathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 10:43615592
- Cytoband
- 10q11.21
- HGVS
- NM_020975.6(RET):c.2671T>G (p.Ser891Ala)
- Allele change
- Missense_S891A
Associated conditions / phenotypes
Multiple endocrine neoplasia, type 2a|Familial medullary thyroid carcinoma|Multiple endocrine neoplasia, type 2|Multiple endocrine neoplasia, type 2b|Multiple endocrine neoplasia type 4|Multiple endocrine neoplasia, type 1|Medullary thyroid carcinoma|Hereditary cancer-predisposing syndrome|MEN2 phenotype: Unclassified
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.