Annotation Detail

Information
Associated Genes
RET
Associated Variants
RET p.Met1064Thr (p.M1064T) ( ENST00000615310.5, ENST00000355710.8 )
RET p.Met1064Thr (p.M1064T) ( ENST00000355710.8, ENST00000615310.5 )
Associated Disease
Hereditary cancer-predisposing syndrome
Source Database
ClinVar
Description
NM_020975.6(RET):c.3191T>C (p.Met1064Thr) AND Hereditary cancer-predisposing syndrome
ClinVar Allele ID
171126
ClinVar RefSeq Alternation Syntax
NM_020975.6:c.3191T>C
Clinical Significance Description
Uncertain significance
Clinical Significance Last Update
2023-04-04
Clinical Significance Review Status
criteria provided, multiple submitters, no conflicts
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV000569531
ClinVar Disease
Hereditary cancer-predisposing syndrome
Observed Origin Sample
germline
Drugs