Annotation Detail
Information
- Associated Genes
- RET
- Associated Variants
-
RET p.Gly533Cys (p.G533C)
(
ENST00000615310.5,
ENST00000355710.8,
ENST00000713926.1,
ENST00000340058.6 )
RET p.Gly533Cys (p.G533C) ( ENST00000340058.6, ENST00000355710.8, ENST00000615310.5, ENST00000713926.1 ) - Associated Disease
- familial medullary thyroid carcinoma
- Source Database
- ClinVar
- Description
- NM_020975.6(RET):c.1597G>T (p.Gly533Cys) AND Familial medullary thyroid carcinoma
- ClinVar Allele ID
- 28989
- ClinVar RefSeq Alternation Syntax
- NM_001406788.1:c.412G>T
- ClinVar RefSeq Alternation Syntax
- NM_001406791.1:c.412G>T
- ClinVar RefSeq Alternation Syntax
- NM_001406792.1:c.148G>T
- ClinVar RefSeq Alternation Syntax
- NM_001406782.1:c.700G>T
- ClinVar RefSeq Alternation Syntax
- NM_000323.2:c.1597G>T
- ClinVar RefSeq Alternation Syntax
- NM_001406774.1:c.1072G>T
- ClinVar RefSeq Alternation Syntax
- NM_001406779.1:c.700G>T
- ClinVar RefSeq Alternation Syntax
- NM_001406785.1:c.700G>T
- ClinVar RefSeq Alternation Syntax
- NM_001406769.1:c.1201G>T
- ClinVar RefSeq Alternation Syntax
- NM_001406770.1:c.1309G>T
- ClinVar RefSeq Alternation Syntax
- NM_001406777.1:c.871G>T
- ClinVar RefSeq Alternation Syntax
- NM_001406759.1:c.1597G>T
- ClinVar RefSeq Alternation Syntax
- NM_001406775.1:c.871G>T
- ClinVar RefSeq Alternation Syntax
- NM_020630.7:c.1597G>T
- ClinVar RefSeq Alternation Syntax
- NM_001406762.1:c.1468G>T
- ClinVar RefSeq Alternation Syntax
- NM_001406784.1:c.607G>T
- ClinVar RefSeq Alternation Syntax
- NM_001406764.1:c.1468G>T
- ClinVar RefSeq Alternation Syntax
- NM_001406793.1:c.148G>T
- ClinVar RefSeq Alternation Syntax
- NM_001406780.1:c.700G>T
- ClinVar RefSeq Alternation Syntax
- NM_001406776.1:c.871G>T
- ClinVar RefSeq Alternation Syntax
- NM_001406786.1:c.571G>T
- ClinVar RefSeq Alternation Syntax
- NM_001406771.1:c.1159G>T
- ClinVar RefSeq Alternation Syntax
- NM_001406773.1:c.1159G>T
- ClinVar RefSeq Alternation Syntax
- NM_001406760.1:c.1597G>T
- ClinVar RefSeq Alternation Syntax
- NM_001406787.1:c.700G>T
- ClinVar RefSeq Alternation Syntax
- NM_001406768.1:c.1468G>T
- ClinVar RefSeq Alternation Syntax
- NM_001406772.1:c.1201G>T
- ClinVar RefSeq Alternation Syntax
- NM_001406767.1:c.1309G>T
- ClinVar RefSeq Alternation Syntax
- NM_001406789.1:c.412G>T
- ClinVar RefSeq Alternation Syntax
- NM_001406794.1:c.148G>T
- ClinVar RefSeq Alternation Syntax
- NM_001406766.1:c.1309G>T
- ClinVar RefSeq Alternation Syntax
- NM_001355216.2:c.835G>T
- ClinVar RefSeq Alternation Syntax
- NM_001406765.1:c.1597G>T
- ClinVar RefSeq Alternation Syntax
- NM_001406790.1:c.412G>T
- ClinVar RefSeq Alternation Syntax
- NM_001406781.1:c.700G>T
- ClinVar RefSeq Alternation Syntax
- NM_001406743.1:c.1597G>T
- ClinVar RefSeq Alternation Syntax
- NM_001406761.1:c.1468G>T
- ClinVar RefSeq Alternation Syntax
- NM_001406763.1:c.1597G>T
- ClinVar RefSeq Alternation Syntax
- NM_001406783.1:c.571G>T
- ClinVar RefSeq Alternation Syntax
- NM_020629.2:c.1597G>T
- ClinVar RefSeq Alternation Syntax
- NM_020975.6:c.1597G>T
- ClinVar RefSeq Alternation Syntax
- NM_001406778.1:c.871G>T
- ClinVar RefSeq Alternation Syntax
- NM_001406744.1:c.1597G>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 1999-02-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000014977
- ClinVar Disease
- Familial medullary thyroid carcinoma
- Observed Origin Sample
- germline
- Pubmed
- 10024437
Drugs