Variant (rsID / SNP)
rs147219360
rs147219360 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RET. Location: chromosome 10, position 43,608,351. 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
- 10:43608351
- Cytoband
- 10q11.21
- HGVS
- NM_020975.6(RET):c.1699G>A (p.Asp567Asn)
- Allele change
- Missense_D567N
Associated conditions / phenotypes
Hereditary cancer-predisposing syndrome|Multiple endocrine neoplasia, type 2|Multiple endocrine neoplasia|Hirschsprung disease, susceptibility to, 1|Pheochromocytoma|Renal hypodysplasia/aplasia 1|Familial medullary thyroid carcinoma
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.