Variant (rsID / SNP)
rs79853121
rs79853121 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RET. Location: chromosome 10, position 43,622,099. Clinical significance in the table: Uncertain significance.
Reference-table entries
RETUncertain significance
- Clinical significance (as recorded)
- Uncertain significance
- Variant type
- single nucleotide variant
- Chromosome / position
- 10:43622099
- Cytoband
- 10q11.21
- HGVS
- NM_020975.6(RET):c.3116C>T (p.Pro1039Leu)
- Allele change
- Missense_P1039L
Associated conditions / phenotypes
Hirschsprung disease, susceptibility to, 1|Aganglionic megacolon|Multiple endocrine neoplasia, type 2b|Multiple endocrine neoplasia, type 2a|Hereditary cancer-predisposing syndrome|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.