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
- Aganglionic megacolon
- Source Database
- ClinVar
- Description
- NM_020975.6(RET):c.3191T>C (p.Met1064Thr) AND Aganglionic megacolon
- ClinVar Allele ID
- 171126
- ClinVar RefSeq Alternation Syntax
- NM_020975.6:c.3191T>C
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2014-06-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000148784
- ClinVar Disease
- Aganglionic megacolon
- Observed Origin Sample
- germline
Drugs