Annotation Detail
Information
- Associated Genes
- RET
- Associated Variants
-
RET p.Phe393Leu (p.F393L)
(
ENST00000355710.8,
ENST00000615310.5,
ENST00000340058.6,
ENST00000713926.1 )
RET p.Phe393Leu (p.F393L) ( ENST00000340058.6, ENST00000355710.8, ENST00000615310.5, ENST00000713926.1 ) - Associated Disease
- Hirschsprung disease, susceptibility to, 1
- Source Database
- ClinVar
- Description
- NM_020975.6(RET):c.1179C>A (p.Phe393Leu) AND Hirschsprung disease, susceptibility to, 1
- ClinVar Allele ID
- 28966
- ClinVar RefSeq Alternation Syntax
- NM_001406764.1:c.1050C>A
- ClinVar RefSeq Alternation Syntax
- NM_001406768.1:c.1050C>A
- ClinVar RefSeq Alternation Syntax
- NM_001406773.1:c.741C>A
- ClinVar RefSeq Alternation Syntax
- NM_001355216.2:c.417C>A
- ClinVar RefSeq Alternation Syntax
- NM_001406775.1:c.453C>A
- ClinVar RefSeq Alternation Syntax
- NM_001406766.1:c.891C>A
- ClinVar RefSeq Alternation Syntax
- NM_001406760.1:c.1179C>A
- ClinVar RefSeq Alternation Syntax
- NM_001406761.1:c.1050C>A
- ClinVar RefSeq Alternation Syntax
- NM_001406776.1:c.453C>A
- ClinVar RefSeq Alternation Syntax
- NM_001406762.1:c.1050C>A
- ClinVar RefSeq Alternation Syntax
- NM_020975.6:c.1179C>A
- ClinVar RefSeq Alternation Syntax
- NM_001406759.1:c.1179C>A
- ClinVar RefSeq Alternation Syntax
- NM_001406767.1:c.891C>A
- ClinVar RefSeq Alternation Syntax
- NM_001406770.1:c.891C>A
- ClinVar RefSeq Alternation Syntax
- NM_001406771.1:c.741C>A
- ClinVar RefSeq Alternation Syntax
- NM_001406765.1:c.1179C>A
- ClinVar RefSeq Alternation Syntax
- NM_001406743.1:c.1179C>A
- ClinVar RefSeq Alternation Syntax
- NM_001406777.1:c.453C>A
- ClinVar RefSeq Alternation Syntax
- NM_001406784.1:c.189C>A
- ClinVar RefSeq Alternation Syntax
- NM_000323.2:c.1179C>A
- ClinVar RefSeq Alternation Syntax
- NM_001406763.1:c.1179C>A
- ClinVar RefSeq Alternation Syntax
- NM_020629.2:c.1179C>A
- ClinVar RefSeq Alternation Syntax
- NM_020630.7:c.1179C>A
- ClinVar RefSeq Alternation Syntax
- NM_001406778.1:c.453C>A
- ClinVar RefSeq Alternation Syntax
- NM_001406744.1:c.1179C>A
- 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/RCV000014952
- ClinVar Disease
- Hirschsprung disease, susceptibility to, 1
- Observed Origin Sample
- germline
- Pubmed
- 8114939
Drugs