Annotation Detail

Information
Associated Genes
RET
Associated Variants
RET p.Met918Thr (p.M918T) ( ENST00000340058.6, ENST00000713926.1, ENST00000355710.8, ENST00000615310.5 )
RET p.Met918Thr (p.M918T) ( ENST00000340058.6, ENST00000355710.8, ENST00000615310.5, ENST00000713926.1 )
Associated Disease
pheochromocytoma
Source Database
ClinVar
Description
NM_020975.6(RET):c.2753T>C (p.Met918Thr) AND Pheochromocytoma
ClinVar Allele ID
28958
ClinVar RefSeq Alternation Syntax
NM_001406768.1:c.2489T>C
ClinVar RefSeq Alternation Syntax
NM_001406760.1:c.2753T>C
ClinVar RefSeq Alternation Syntax
NM_001406769.1:c.2357T>C
ClinVar RefSeq Alternation Syntax
NM_001406787.1:c.1721T>C
ClinVar RefSeq Alternation Syntax
NM_020629.2:c.2753T>C
ClinVar RefSeq Alternation Syntax
NM_001406786.1:c.1727T>C
ClinVar RefSeq Alternation Syntax
NM_001406773.1:c.2315T>C
ClinVar RefSeq Alternation Syntax
NM_001406783.1:c.1727T>C
ClinVar RefSeq Alternation Syntax
NM_001406771.1:c.2315T>C
ClinVar RefSeq Alternation Syntax
NM_001406743.1:c.2753T>C
ClinVar RefSeq Alternation Syntax
NM_001406744.1:c.2753T>C
ClinVar RefSeq Alternation Syntax
NM_001406788.1:c.1568T>C
ClinVar RefSeq Alternation Syntax
NM_001406775.1:c.2027T>C
ClinVar RefSeq Alternation Syntax
NM_001355216.2:c.1991T>C
ClinVar RefSeq Alternation Syntax
NM_001406772.1:c.2357T>C
ClinVar RefSeq Alternation Syntax
NM_001406776.1:c.2027T>C
ClinVar RefSeq Alternation Syntax
NM_001406784.1:c.1763T>C
ClinVar RefSeq Alternation Syntax
NM_001406777.1:c.2027T>C
ClinVar RefSeq Alternation Syntax
NM_001406764.1:c.2624T>C
ClinVar RefSeq Alternation Syntax
NM_020975.6:c.2753T>C
ClinVar RefSeq Alternation Syntax
NM_001406761.1:c.2624T>C
ClinVar RefSeq Alternation Syntax
NM_001406765.1:c.2618T>C
ClinVar RefSeq Alternation Syntax
NM_001406779.1:c.1856T>C
ClinVar RefSeq Alternation Syntax
NM_001406793.1:c.1304T>C
ClinVar RefSeq Alternation Syntax
NM_001406794.1:c.1304T>C
ClinVar RefSeq Alternation Syntax
NM_001406778.1:c.2027T>C
ClinVar RefSeq Alternation Syntax
NM_001406759.1:c.2753T>C
ClinVar RefSeq Alternation Syntax
NM_001406762.1:c.2624T>C
ClinVar RefSeq Alternation Syntax
NM_001406785.1:c.1736T>C
ClinVar RefSeq Alternation Syntax
NM_001406791.1:c.1448T>C
ClinVar RefSeq Alternation Syntax
NM_020630.7:c.2753T>C
ClinVar RefSeq Alternation Syntax
NM_001406790.1:c.1568T>C
ClinVar RefSeq Alternation Syntax
NM_001406766.1:c.2465T>C
ClinVar RefSeq Alternation Syntax
NM_001406792.1:c.1304T>C
ClinVar RefSeq Alternation Syntax
NM_001406767.1:c.2465T>C
ClinVar RefSeq Alternation Syntax
NM_001406774.1:c.2228T>C
ClinVar RefSeq Alternation Syntax
NM_001406763.1:c.2618T>C
ClinVar RefSeq Alternation Syntax
NM_001406789.1:c.1568T>C
ClinVar RefSeq Alternation Syntax
NM_001406770.1:c.2465T>C
ClinVar RefSeq Alternation Syntax
NM_000323.2:c.2753T>C
ClinVar RefSeq Alternation Syntax
NM_001406782.1:c.1856T>C
ClinVar RefSeq Alternation Syntax
NM_001406781.1:c.1856T>C
ClinVar RefSeq Alternation Syntax
NM_001406780.1:c.1856T>C
Clinical Significance Description
Pathogenic
Clinical Significance Last Update
1998-05-07
Clinical Significance Review Status
no assertion criteria provided
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV000014943
ClinVar Disease
Pheochromocytoma
Observed Origin Sample
somatic
Pubmed
3078962
Pubmed
7536460
Pubmed
2660074
Pubmed
7824936
Pubmed
7906866
Pubmed
7845675
Pubmed
7906417
Pubmed
7977365
Pubmed
8782503
Pubmed
9620546
Drugs