Variant (rsID / SNP)
rs78935588
rs78935588 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RET. Location: chromosome 10, position 43,609,967. Clinical significance in the table: Pathogenic.
Reference-table entries
RETPathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 10:43609967
- Cytoband
- 10q11.21
- HGVS
- NM_020975.6(RET):c.1919C>G (p.Ala640Gly)
- Allele change
- Missense_A640G
Associated conditions / phenotypes
Multiple endocrine neoplasia, type 2a
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.