Annotation Detail
Information
- Associated Genes
- RET
- Associated Variants
-
RET p.Ser836= (p.S836=)
(
ENST00000355710.8,
ENST00000615310.5,
ENST00000713926.1,
ENST00000340058.6 )
RET p.Ser836= (p.S836=) ( ENST00000713926.1, ENST00000340058.6, ENST00000355710.8, ENST00000615310.5 ) - Associated Disease
- Hirschsprung disease, susceptibility to, 1
- Source Database
- ClinVar
- Description
- NM_020975.6(RET):c.2508C>T (p.Ser836=) AND Hirschsprung disease, susceptibility to, 1
- ClinVar Allele ID
- 36287
- ClinVar RefSeq Alternation Syntax
- NM_001406743.1:c.2508C>T
- ClinVar RefSeq Alternation Syntax
- NM_020629.2:c.2508C>T
- ClinVar RefSeq Alternation Syntax
- NM_001406770.1:c.2220C>T
- ClinVar RefSeq Alternation Syntax
- NM_001406763.1:c.2373C>T
- ClinVar RefSeq Alternation Syntax
- NM_001406769.1:c.2112C>T
- ClinVar RefSeq Alternation Syntax
- NM_001406774.1:c.1983C>T
- ClinVar RefSeq Alternation Syntax
- NM_001406765.1:c.2373C>T
- ClinVar RefSeq Alternation Syntax
- NM_001355216.2:c.1746C>T
- ClinVar RefSeq Alternation Syntax
- NM_001406764.1:c.2379C>T
- ClinVar RefSeq Alternation Syntax
- NM_001406767.1:c.2220C>T
- ClinVar RefSeq Alternation Syntax
- NM_001406760.1:c.2508C>T
- ClinVar RefSeq Alternation Syntax
- NM_001406766.1:c.2220C>T
- ClinVar RefSeq Alternation Syntax
- NM_001406785.1:c.1491C>T
- ClinVar RefSeq Alternation Syntax
- NM_001406791.1:c.1203C>T
- ClinVar RefSeq Alternation Syntax
- NM_001406779.1:c.1611C>T
- ClinVar RefSeq Alternation Syntax
- NM_001406783.1:c.1482C>T
- ClinVar RefSeq Alternation Syntax
- NM_001406787.1:c.1476C>T
- ClinVar RefSeq Alternation Syntax
- NM_020630.7:c.2508C>T
- ClinVar RefSeq Alternation Syntax
- NM_001406773.1:c.2070C>T
- ClinVar RefSeq Alternation Syntax
- NM_001406784.1:c.1518C>T
- ClinVar RefSeq Alternation Syntax
- NM_001406772.1:c.2112C>T
- ClinVar RefSeq Alternation Syntax
- NM_001406790.1:c.1323C>T
- ClinVar RefSeq Alternation Syntax
- NM_001406775.1:c.1782C>T
- ClinVar RefSeq Alternation Syntax
- NM_001406771.1:c.2070C>T
- ClinVar RefSeq Alternation Syntax
- NM_001406788.1:c.1323C>T
- ClinVar RefSeq Alternation Syntax
- NM_001406782.1:c.1611C>T
- ClinVar RefSeq Alternation Syntax
- NM_001406794.1:c.1059C>T
- ClinVar RefSeq Alternation Syntax
- NM_000323.2:c.2508C>T
- ClinVar RefSeq Alternation Syntax
- NM_001406761.1:c.2379C>T
- ClinVar RefSeq Alternation Syntax
- NM_001406762.1:c.2379C>T
- ClinVar RefSeq Alternation Syntax
- NM_001406777.1:c.1782C>T
- ClinVar RefSeq Alternation Syntax
- NM_001406778.1:c.1782C>T
- ClinVar RefSeq Alternation Syntax
- NM_001406759.1:c.2508C>T
- ClinVar RefSeq Alternation Syntax
- NM_001406789.1:c.1323C>T
- ClinVar RefSeq Alternation Syntax
- NM_001406776.1:c.1782C>T
- ClinVar RefSeq Alternation Syntax
- NM_001406786.1:c.1482C>T
- ClinVar RefSeq Alternation Syntax
- NM_001406793.1:c.1059C>T
- ClinVar RefSeq Alternation Syntax
- NM_001406768.1:c.2244C>T
- ClinVar RefSeq Alternation Syntax
- NM_001406744.1:c.2508C>T
- ClinVar RefSeq Alternation Syntax
- NM_001406780.1:c.1611C>T
- ClinVar RefSeq Alternation Syntax
- NM_001406792.1:c.1059C>T
- ClinVar RefSeq Alternation Syntax
- NM_020975.6:c.2508C>T
- ClinVar RefSeq Alternation Syntax
- NM_001406781.1:c.1611C>T
- Clinical Significance Description
- Likely benign
- Clinical Significance Last Update
- 2017-04-27
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000264509
- ClinVar Disease
- Hirschsprung disease, susceptibility to, 1
- Observed Origin Sample
- germline
Drugs