Annotation Detail
Information
- Associated Genes
- RET
- Associated Variants
-
RET p.Arg982Cys (p.R982C)
(
ENST00000340058.6,
ENST00000355710.8,
ENST00000615310.5,
ENST00000713926.1 )
RET p.Arg982Cys (p.R982C) ( ENST00000340058.6, ENST00000355710.8, ENST00000615310.5, ENST00000713926.1 ) - Associated Disease
- Hereditary cancer-predisposing syndrome
- Source Database
- ClinVar
- Description
- NM_020975.6(RET):c.2944C>T (p.Arg982Cys) AND Hereditary cancer-predisposing syndrome
- Observed Origin Sample
- germline
- ClinVar Allele ID
- 28977
- ClinVar RefSeq Alternation Syntax
- NM_001406760.1:c.2944C>T
- ClinVar RefSeq Alternation Syntax
- NM_001406768.1:c.2680C>T
- ClinVar RefSeq Alternation Syntax
- NM_001406769.1:c.2548C>T
- ClinVar RefSeq Alternation Syntax
- NM_020629.2:c.2944C>T
- ClinVar RefSeq Alternation Syntax
- NM_001406787.1:c.1912C>T
- ClinVar RefSeq Alternation Syntax
- NM_001406786.1:c.1918C>T
- ClinVar RefSeq Alternation Syntax
- NM_001406789.1:c.1759C>T
- ClinVar RefSeq Alternation Syntax
- NM_001406773.1:c.2506C>T
- ClinVar RefSeq Alternation Syntax
- NM_001406772.1:c.2548C>T
- ClinVar RefSeq Alternation Syntax
- NM_001406784.1:c.1954C>T
- ClinVar RefSeq Alternation Syntax
- NM_001406759.1:c.2944C>T
- ClinVar RefSeq Alternation Syntax
- NM_001406793.1:c.1495C>T
- ClinVar RefSeq Alternation Syntax
- NM_001406785.1:c.1927C>T
- ClinVar RefSeq Alternation Syntax
- NM_001406788.1:c.1759C>T
- ClinVar RefSeq Alternation Syntax
- NM_001406794.1:c.1495C>T
- ClinVar RefSeq Alternation Syntax
- NM_001406762.1:c.2815C>T
- ClinVar RefSeq Alternation Syntax
- NM_001406791.1:c.1639C>T
- ClinVar RefSeq Alternation Syntax
- NM_001406771.1:c.2506C>T
- ClinVar RefSeq Alternation Syntax
- NM_001406766.1:c.2656C>T
- ClinVar RefSeq Alternation Syntax
- NM_001406767.1:c.2656C>T
- ClinVar RefSeq Alternation Syntax
- NM_001406782.1:c.2047C>T
- ClinVar RefSeq Alternation Syntax
- NM_001406783.1:c.1918C>T
- ClinVar RefSeq Alternation Syntax
- NM_001406764.1:c.2815C>T
- ClinVar RefSeq Alternation Syntax
- NM_001406781.1:c.2047C>T
- ClinVar RefSeq Alternation Syntax
- NM_001406790.1:c.1759C>T
- ClinVar RefSeq Alternation Syntax
- NM_001355216.2:c.2182C>T
- ClinVar RefSeq Alternation Syntax
- NM_001406763.1:c.2809C>T
- ClinVar RefSeq Alternation Syntax
- NM_001406780.1:c.2047C>T
- ClinVar RefSeq Alternation Syntax
- NM_020630.7:c.2944C>T
- ClinVar RefSeq Alternation Syntax
- NM_001406765.1:c.2809C>T
- ClinVar RefSeq Alternation Syntax
- NM_001406778.1:c.2218C>T
- ClinVar RefSeq Alternation Syntax
- NM_001406761.1:c.2815C>T
- ClinVar RefSeq Alternation Syntax
- NM_001406774.1:c.2419C>T
- ClinVar RefSeq Alternation Syntax
- NM_001406777.1:c.2218C>T
- ClinVar RefSeq Alternation Syntax
- NM_001406792.1:c.1495C>T
- ClinVar RefSeq Alternation Syntax
- NM_020975.6:c.2944C>T
- ClinVar RefSeq Alternation Syntax
- NM_001406775.1:c.2218C>T
- ClinVar RefSeq Alternation Syntax
- NM_001406776.1:c.2218C>T
- ClinVar RefSeq Alternation Syntax
- NM_001406744.1:c.2944C>T
- ClinVar RefSeq Alternation Syntax
- NM_001406743.1:c.2944C>T
- ClinVar RefSeq Alternation Syntax
- NM_001406770.1:c.2656C>T
- ClinVar RefSeq Alternation Syntax
- NM_001406779.1:c.2047C>T
- ClinVar RefSeq Alternation Syntax
- NM_000323.2:c.2944C>T
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2020-10-15
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000162949
- ClinVar Disease
- Hereditary cancer-predisposing syndrome
Drugs