Annotation Detail
Information
- Associated Genes
- RET
- Associated Variants
-
RET p.Arg972Gly (p.R972G)
(
ENST00000713926.1,
ENST00000615310.5,
ENST00000355710.8,
ENST00000340058.6 )
RET p.Arg972Gly (p.R972G) ( ENST00000340058.6, ENST00000355710.8, ENST00000615310.5, ENST00000713926.1 ) - Associated Disease
- Hirschsprung disease, susceptibility to, 1
- Source Database
- ClinVar
- Description
- NM_020975.6(RET):c.2914A>G (p.Arg972Gly) AND Hirschsprung disease, susceptibility to, 1
- ClinVar Allele ID
- 28961
- ClinVar RefSeq Alternation Syntax
- NM_001406794.1:c.1465A>G
- ClinVar RefSeq Alternation Syntax
- NM_000323.2:c.2914A>G
- ClinVar RefSeq Alternation Syntax
- NM_001355216.2:c.2152A>G
- ClinVar RefSeq Alternation Syntax
- NM_001406761.1:c.2785A>G
- ClinVar RefSeq Alternation Syntax
- NM_001406793.1:c.1465A>G
- ClinVar RefSeq Alternation Syntax
- NM_001406765.1:c.2779A>G
- ClinVar RefSeq Alternation Syntax
- NM_001406764.1:c.2785A>G
- ClinVar RefSeq Alternation Syntax
- NM_001406763.1:c.2779A>G
- ClinVar RefSeq Alternation Syntax
- NM_001406790.1:c.1729A>G
- ClinVar RefSeq Alternation Syntax
- NM_001406792.1:c.1465A>G
- ClinVar RefSeq Alternation Syntax
- NM_020975.6:c.2914A>G
- ClinVar RefSeq Alternation Syntax
- NM_001406774.1:c.2389A>G
- ClinVar RefSeq Alternation Syntax
- NM_001406771.1:c.2476A>G
- ClinVar RefSeq Alternation Syntax
- NM_001406784.1:c.1924A>G
- ClinVar RefSeq Alternation Syntax
- NM_001406783.1:c.1888A>G
- ClinVar RefSeq Alternation Syntax
- NM_001406781.1:c.2017A>G
- ClinVar RefSeq Alternation Syntax
- NM_001406778.1:c.2188A>G
- ClinVar RefSeq Alternation Syntax
- NM_001406780.1:c.2017A>G
- ClinVar RefSeq Alternation Syntax
- NM_001406782.1:c.2017A>G
- ClinVar RefSeq Alternation Syntax
- NM_001406767.1:c.2626A>G
- ClinVar RefSeq Alternation Syntax
- NM_001406791.1:c.1609A>G
- ClinVar RefSeq Alternation Syntax
- NM_020630.7:c.2914A>G
- ClinVar RefSeq Alternation Syntax
- NM_001406759.1:c.2914A>G
- ClinVar RefSeq Alternation Syntax
- NM_001406762.1:c.2785A>G
- ClinVar RefSeq Alternation Syntax
- NM_001406785.1:c.1897A>G
- ClinVar RefSeq Alternation Syntax
- NM_001406766.1:c.2626A>G
- ClinVar RefSeq Alternation Syntax
- NM_001406768.1:c.2650A>G
- ClinVar RefSeq Alternation Syntax
- NM_001406772.1:c.2518A>G
- ClinVar RefSeq Alternation Syntax
- NM_001406777.1:c.2188A>G
- ClinVar RefSeq Alternation Syntax
- NM_001406760.1:c.2914A>G
- ClinVar RefSeq Alternation Syntax
- NM_001406776.1:c.2188A>G
- ClinVar RefSeq Alternation Syntax
- NM_001406788.1:c.1729A>G
- ClinVar RefSeq Alternation Syntax
- NM_001406786.1:c.1888A>G
- ClinVar RefSeq Alternation Syntax
- NM_001406775.1:c.2188A>G
- ClinVar RefSeq Alternation Syntax
- NM_001406789.1:c.1729A>G
- ClinVar RefSeq Alternation Syntax
- NM_001406773.1:c.2476A>G
- ClinVar RefSeq Alternation Syntax
- NM_001406787.1:c.1882A>G
- ClinVar RefSeq Alternation Syntax
- NM_001406744.1:c.2914A>G
- ClinVar RefSeq Alternation Syntax
- NM_020629.2:c.2914A>G
- ClinVar RefSeq Alternation Syntax
- NM_001406743.1:c.2914A>G
- ClinVar RefSeq Alternation Syntax
- NM_001406769.1:c.2518A>G
- ClinVar RefSeq Alternation Syntax
- NM_001406779.1:c.2017A>G
- ClinVar RefSeq Alternation Syntax
- NM_001406770.1:c.2626A>G
- Clinical Significance Description
- risk factor
- Clinical Significance Last Update
- 1994-01-27
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000014947
- ClinVar Disease
- Hirschsprung disease, susceptibility to, 1
- Observed Origin Sample
- germline
- Pubmed
- 8114938
Drugs