Variant (rsID / SNP)
rs75996173
rs75996173 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RET. Location: chromosome 10, position 43,609,949. Clinical significance in the table: Pathogenic.
Reference-table entries
RETPathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 10:43609949
- Cytoband
- 10q11.21
- HGVS
- NM_020975.6(RET):c.1901G>A (p.Cys634Tyr)
- Allele change
- Missense_C634Y
Associated conditions / phenotypes
Pheochromocytoma|Multiple endocrine neoplasia, type 2a|Hereditary cancer-predisposing syndrome|Neoplasm|Multiple endocrine neoplasia type 4|Multiple endocrine neoplasia, type 1|Medullary thyroid carcinoma|Multiple endocrine neoplasia, type 2b|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.