Variant (rsID / SNP)
rs1800858
rs1800858 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RET. Location: chromosome 10, position 43,595,968. Clinical significance in the table: Benign.
Reference-table entries
RETBenign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 10:43595968
- Cytoband
- 10q11.21
- HGVS
- NM_020975.6(RET):c.135= (p.Ala45_Ala46=)
- Allele change
- Synonymous_A45A
Associated conditions / phenotypes
Hirschsprung disease, susceptibility to, 1|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.