Variant (rsID / SNP)
rs78014899
rs78014899 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RET. Location: chromosome 10, position 43,613,840. Clinical significance in the table: Pathogenic/Likely pathogenic.
Reference-table entries
RETPathogenic
- Clinical significance (as recorded)
- Pathogenic/Likely pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 10:43613840
- Cytoband
- 10q11.21
- HGVS
- NM_020975.6(RET):c.2304G>C (p.Glu768Asp)
- Allele change
- Missense_E768D
Associated conditions / phenotypes
Familial medullary thyroid carcinoma|Multiple endocrine neoplasia, type 2|Multiple endocrine neoplasia, type 2b|Neoplasm|Multiple endocrine neoplasia, type 2a|Medullary thyroid carcinoma|Multiple endocrine neoplasia type 4|Multiple endocrine neoplasia, type 1|Hereditary cancer-predisposing syndrome|Hepatocellular carcinoma
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.