Variant (rsID / SNP)
rs17158558
rs17158558 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RET. Location: chromosome 10, position 43,620,335. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 10:43620335
- Cytoband
- 10q11.21
- HGVS
- NM_020975.6(RET):c.2944C>T (p.Arg982Cys)
- Allele change
- Missense_R982C
Associated conditions / phenotypes
Hirschsprung disease, susceptibility to, 1|Hereditary cancer-predisposing syndrome|Multiple endocrine neoplasia|Familial medullary thyroid carcinoma|Pheochromocytoma|Renal hypodysplasia/aplasia 1|Multiple endocrine neoplasia, type 2a|Multiple endocrine neoplasia, type 2b|Aganglionic megacolon|Multiple endocrine neoplasia, type 2|Malignant tumor of breast|Breast-ovarian cancer, familial, susceptibility to, 1
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.