Variant (rsID / SNP)
rs78347871
rs78347871 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RET. Location: chromosome 10, position 43,617,398. 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
- 10:43617398
- Cytoband
- 10q11.21
- HGVS
- NM_020975.6(RET):c.2735G>C (p.Arg912Pro)
- Allele change
- Missense_R912P
Associated conditions / phenotypes
Familial medullary thyroid carcinoma|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.