Variant (rsID / SNP)
rs148935214
rs148935214 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RET. Location: chromosome 10, position 43,609,994. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
RETConflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 10:43609994
- Cytoband
- 10q11.21
- HGVS
- NM_020975.6(RET):c.1946C>T (p.Ser649Leu)
- Allele change
- Missense_S649L
Associated conditions / phenotypes
Elevated basal serum calcitonin|Hereditary cancer-predisposing syndrome|Multiple endocrine neoplasia, type 2a|Multiple endocrine neoplasia, type 2|Pheochromocytoma|Renal hypodysplasia/aplasia 1|Hirschsprung disease, susceptibility to, 1|Multiple endocrine neoplasia|Appendicitis
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.