Annotation Detail
Information
- Associated Genes
- RET
- Associated Variants
-
RET p.Asp631Asn (p.D631N)
(
ENST00000355710.8,
ENST00000615310.5,
ENST00000340058.6,
ENST00000713926.1 )
RET p.Asp631Asn (p.D631N) ( ENST00000340058.6, ENST00000355710.8, ENST00000615310.5, ENST00000713926.1 ) - Associated Disease
- Hirschsprung disease, susceptibility to, 1
- Source Database
- ClinVar
- Description
- NM_020975.6(RET):c.1891G>A (p.Asp631Asn) AND Hirschsprung disease, susceptibility to, 1
- ClinVar Allele ID
- 36254
- ClinVar RefSeq Alternation Syntax
- NM_001406779.1:c.994G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406790.1:c.706G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406744.1:c.1891G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406775.1:c.1165G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406743.1:c.1891G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406778.1:c.1165G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406777.1:c.1165G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406774.1:c.1366G>A
- ClinVar RefSeq Alternation Syntax
- NM_020975.6:c.1891G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406783.1:c.865G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406776.1:c.1165G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406760.1:c.1891G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406788.1:c.706G>A
- ClinVar RefSeq Alternation Syntax
- NM_020629.2:c.1891G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406769.1:c.1495G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406794.1:c.442G>A
- ClinVar RefSeq Alternation Syntax
- NM_000323.2:c.1891G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406784.1:c.901G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406770.1:c.1603G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406782.1:c.994G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406785.1:c.874G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406766.1:c.1603G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406764.1:c.1762G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406789.1:c.706G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406772.1:c.1495G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406793.1:c.442G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406761.1:c.1762G>A
- ClinVar RefSeq Alternation Syntax
- NM_001355216.2:c.1129G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406773.1:c.1453G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406781.1:c.994G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406792.1:c.442G>A
- ClinVar RefSeq Alternation Syntax
- NM_020630.7:c.1891G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406791.1:c.586G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406771.1:c.1453G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406759.1:c.1891G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406762.1:c.1762G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406767.1:c.1603G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406780.1:c.994G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406786.1:c.865G>A
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2023-06-22
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV003460488
- ClinVar Disease
- Hirschsprung disease, susceptibility to, 1
- Observed Origin Sample
- unknown
Drugs