Annotation Detail
Information
- Associated Genes
- RET
- Associated Variants
-
RET p.Cys634Gly (p.C634G)
(
ENST00000340058.6,
ENST00000355710.8,
ENST00000615310.5,
ENST00000713926.1 )
RET p.Cys634Gly (p.C634G) ( ENST00000340058.6, ENST00000355710.8, ENST00000615310.5, ENST00000713926.1 ) - Associated Disease
- multiple endocrine neoplasia type 2A
- Source Database
- ClinVar
- Description
- NM_020975.6(RET):c.1900T>G (p.Cys634Gly) AND Multiple endocrine neoplasia type 2A
- ClinVar Allele ID
- 28947
- ClinVar RefSeq Alternation Syntax
- NM_001406782.1:c.1003T>G
- ClinVar RefSeq Alternation Syntax
- NM_020630.7:c.1900T>G
- ClinVar RefSeq Alternation Syntax
- NM_001406771.1:c.1462T>G
- ClinVar RefSeq Alternation Syntax
- NM_001406789.1:c.715T>G
- ClinVar RefSeq Alternation Syntax
- NM_001406780.1:c.1003T>G
- ClinVar RefSeq Alternation Syntax
- NM_001406793.1:c.451T>G
- ClinVar RefSeq Alternation Syntax
- NM_001355216.2:c.1138T>G
- ClinVar RefSeq Alternation Syntax
- NM_001406773.1:c.1462T>G
- ClinVar RefSeq Alternation Syntax
- NM_001406779.1:c.1003T>G
- ClinVar RefSeq Alternation Syntax
- NM_001406783.1:c.874T>G
- ClinVar RefSeq Alternation Syntax
- NM_000323.2:c.1900T>G
- ClinVar RefSeq Alternation Syntax
- NM_001406794.1:c.451T>G
- ClinVar RefSeq Alternation Syntax
- NM_001406788.1:c.715T>G
- ClinVar RefSeq Alternation Syntax
- NM_001406770.1:c.1612T>G
- ClinVar RefSeq Alternation Syntax
- NM_001406784.1:c.910T>G
- ClinVar RefSeq Alternation Syntax
- NM_001406778.1:c.1174T>G
- ClinVar RefSeq Alternation Syntax
- NM_001406785.1:c.883T>G
- ClinVar RefSeq Alternation Syntax
- NM_020629.2:c.1900T>G
- ClinVar RefSeq Alternation Syntax
- NM_001406760.1:c.1900T>G
- ClinVar RefSeq Alternation Syntax
- NM_001406743.1:c.1900T>G
- ClinVar RefSeq Alternation Syntax
- NM_001406777.1:c.1174T>G
- ClinVar RefSeq Alternation Syntax
- NM_001406791.1:c.595T>G
- ClinVar RefSeq Alternation Syntax
- NM_001406769.1:c.1504T>G
- ClinVar RefSeq Alternation Syntax
- NM_001406744.1:c.1900T>G
- ClinVar RefSeq Alternation Syntax
- NM_001406775.1:c.1174T>G
- ClinVar RefSeq Alternation Syntax
- NM_001406790.1:c.715T>G
- ClinVar RefSeq Alternation Syntax
- NM_001406774.1:c.1375T>G
- ClinVar RefSeq Alternation Syntax
- NM_001406776.1:c.1174T>G
- ClinVar RefSeq Alternation Syntax
- NM_001406761.1:c.1771T>G
- ClinVar RefSeq Alternation Syntax
- NM_020975.6:c.1900T>G
- ClinVar RefSeq Alternation Syntax
- NM_001406759.1:c.1900T>G
- ClinVar RefSeq Alternation Syntax
- NM_001406772.1:c.1504T>G
- ClinVar RefSeq Alternation Syntax
- NM_001406766.1:c.1612T>G
- ClinVar RefSeq Alternation Syntax
- NM_001406764.1:c.1771T>G
- ClinVar RefSeq Alternation Syntax
- NM_001406792.1:c.451T>G
- ClinVar RefSeq Alternation Syntax
- NM_001406767.1:c.1612T>G
- ClinVar RefSeq Alternation Syntax
- NM_001406786.1:c.874T>G
- ClinVar RefSeq Alternation Syntax
- NM_001406762.1:c.1771T>G
- ClinVar RefSeq Alternation Syntax
- NM_001406781.1:c.1003T>G
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2002-05-09
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000014922
- ClinVar Disease
- Multiple endocrine neoplasia type 2A
- Observed Origin Sample
- germline
- Pubmed
- 3078962
- Pubmed
- 9111993
- Pubmed
- 36900098
- Pubmed
- 7536460
- Pubmed
- 12000816
- Pubmed
- 7907913
- Pubmed
- 8099202
Drugs