Annotation Detail
Information
- Associated Genes
- RET
- Associated Variants
-
RET p.Arg694Gln (p.R694Q)
(
ENST00000340058.6,
ENST00000713926.1,
ENST00000355710.8,
ENST00000615310.5 )
RET p.Arg694Gln (p.R694Q) ( ENST00000340058.6, ENST00000355710.8, ENST00000615310.5, ENST00000713926.1 ) - Associated Disease
- Aganglionic megacolon
- Source Database
- ClinVar
- Description
- NM_020975.6(RET):c.2081G>A (p.Arg694Gln) AND Aganglionic megacolon
- ClinVar Allele ID
- 171125
- ClinVar RefSeq Alternation Syntax
- NM_001355216.2:c.1319G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406779.1:c.1184G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406764.1:c.1952G>A
- ClinVar RefSeq Alternation Syntax
- NM_020630.7:c.2081G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406765.1:c.1946G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406785.1:c.1064G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406790.1:c.896G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406762.1:c.1952G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406761.1:c.1952G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406781.1:c.1184G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406780.1:c.1184G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406782.1:c.1184G>A
- ClinVar RefSeq Alternation Syntax
- NM_000323.2:c.2081G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406767.1:c.1793G>A
- ClinVar RefSeq Alternation Syntax
- NM_020975.6:c.2081G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406773.1:c.1643G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406766.1:c.1793G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406771.1:c.1643G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406744.1:c.2081G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406743.1:c.2081G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406772.1:c.1685G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406793.1:c.632G>A
- ClinVar RefSeq Alternation Syntax
- NM_020629.2:c.2081G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406786.1:c.1055G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406770.1:c.1793G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406775.1:c.1355G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406777.1:c.1355G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406768.1:c.1817G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406776.1:c.1355G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406788.1:c.896G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406791.1:c.776G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406794.1:c.632G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406760.1:c.2081G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406778.1:c.1355G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406792.1:c.632G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406759.1:c.2081G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406763.1:c.1946G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406774.1:c.1556G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406783.1:c.1055G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406787.1:c.1049G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406769.1:c.1685G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406784.1:c.1091G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406789.1:c.896G>A
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2014-06-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000148781
- ClinVar Disease
- Aganglionic megacolon
- Observed Origin Sample
- germline
Drugs