Annotation Detail
Information
- Associated Genes
- RET
- Associated Variants
-
RET p.Pro1039Gln (p.P1039Q)
(
ENST00000615310.5,
ENST00000355710.8,
ENST00000713926.1,
ENST00000340058.6 )
RET p.Pro1039Gln (p.P1039Q) ( ENST00000340058.6, ENST00000355710.8, ENST00000615310.5, ENST00000713926.1 ) - Associated Disease
- Multiple endocrine neoplasia, type 2
- Source Database
- ClinVar
- Description
- NM_020975.6(RET):c.3116C>A (p.Pro1039Gln) AND Multiple endocrine neoplasia, type 2
- ClinVar Allele ID
- 138921
- ClinVar RefSeq Alternation Syntax
- NM_001406771.1:c.2678C>A
- ClinVar RefSeq Alternation Syntax
- NM_001406785.1:c.2099C>A
- ClinVar RefSeq Alternation Syntax
- NM_001406773.1:c.2678C>A
- ClinVar RefSeq Alternation Syntax
- NM_001406782.1:c.2219C>A
- ClinVar RefSeq Alternation Syntax
- NM_000323.2:c.3116C>A
- ClinVar RefSeq Alternation Syntax
- NM_020975.6:c.3116C>A
- ClinVar RefSeq Alternation Syntax
- NM_001355216.2:c.2354C>A
- ClinVar RefSeq Alternation Syntax
- NM_001406791.1:c.1811C>A
- ClinVar RefSeq Alternation Syntax
- NM_001406744.1:c.3116C>A
- ClinVar RefSeq Alternation Syntax
- NM_001406779.1:c.2219C>A
- ClinVar RefSeq Alternation Syntax
- NM_001406784.1:c.2126C>A
- ClinVar RefSeq Alternation Syntax
- NM_001406770.1:c.2828C>A
- ClinVar RefSeq Alternation Syntax
- NM_001406789.1:c.1931C>A
- ClinVar RefSeq Alternation Syntax
- NM_001406788.1:c.1931C>A
- ClinVar RefSeq Alternation Syntax
- NM_001406759.1:c.3116C>A
- ClinVar RefSeq Alternation Syntax
- NM_020630.7:c.3116C>A
- ClinVar RefSeq Alternation Syntax
- NM_001406772.1:c.2720C>A
- ClinVar RefSeq Alternation Syntax
- NM_001406774.1:c.2591C>A
- ClinVar RefSeq Alternation Syntax
- NM_001406760.1:c.3116C>A
- ClinVar RefSeq Alternation Syntax
- NM_001406776.1:c.2390C>A
- ClinVar RefSeq Alternation Syntax
- NM_020629.2:c.3116C>A
- ClinVar RefSeq Alternation Syntax
- NM_001406786.1:c.2090C>A
- ClinVar RefSeq Alternation Syntax
- NM_001406778.1:c.2390C>A
- ClinVar RefSeq Alternation Syntax
- NM_001406765.1:c.2981C>A
- ClinVar RefSeq Alternation Syntax
- NM_001406777.1:c.2390C>A
- ClinVar RefSeq Alternation Syntax
- NM_001406787.1:c.2084C>A
- ClinVar RefSeq Alternation Syntax
- NM_001406794.1:c.1667C>A
- ClinVar RefSeq Alternation Syntax
- NM_001406761.1:c.2987C>A
- ClinVar RefSeq Alternation Syntax
- NM_001406762.1:c.2987C>A
- ClinVar RefSeq Alternation Syntax
- NM_001406793.1:c.1667C>A
- ClinVar RefSeq Alternation Syntax
- NM_001406743.1:c.3116C>A
- ClinVar RefSeq Alternation Syntax
- NM_001406792.1:c.1667C>A
- ClinVar RefSeq Alternation Syntax
- NM_001406764.1:c.2987C>A
- ClinVar RefSeq Alternation Syntax
- NM_001406763.1:c.2981C>A
- ClinVar RefSeq Alternation Syntax
- NM_001406775.1:c.2390C>A
- ClinVar RefSeq Alternation Syntax
- NM_001406767.1:c.2828C>A
- ClinVar RefSeq Alternation Syntax
- NM_001406780.1:c.2219C>A
- ClinVar RefSeq Alternation Syntax
- NM_001406766.1:c.2828C>A
- ClinVar RefSeq Alternation Syntax
- NM_001406768.1:c.2852C>A
- ClinVar RefSeq Alternation Syntax
- NM_001406781.1:c.2219C>A
- ClinVar RefSeq Alternation Syntax
- NM_001406790.1:c.1931C>A
- ClinVar RefSeq Alternation Syntax
- NM_001406769.1:c.2720C>A
- ClinVar RefSeq Alternation Syntax
- NM_001406783.1:c.2090C>A
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2021-01-15
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000793359
- ClinVar Disease
- Multiple endocrine neoplasia, type 2
- Observed Origin Sample
- germline
Drugs