Annotation Detail
Information
- Associated Genes
- RET
- Associated Variants
-
RET p.Ser904Phe (p.S904F)
(
ENST00000355710.8,
ENST00000713926.1,
ENST00000340058.6,
ENST00000615310.5 )
RET p.Ser904Phe (p.S904F) ( ENST00000340058.6, ENST00000355710.8, ENST00000615310.5, ENST00000713926.1 ) - Associated Disease
- multiple endocrine neoplasia type 2A
- Source Database
- ClinVar
- Description
- NM_020975.6(RET):c.2711C>T (p.Ser904Phe) AND Multiple endocrine neoplasia type 2A
- ClinVar Allele ID
- 36304
- ClinVar RefSeq Alternation Syntax
- NM_001406776.1:c.1985C>T
- ClinVar RefSeq Alternation Syntax
- NM_001406778.1:c.1985C>T
- ClinVar RefSeq Alternation Syntax
- NM_001406788.1:c.1526C>T
- ClinVar RefSeq Alternation Syntax
- NM_001406789.1:c.1526C>T
- ClinVar RefSeq Alternation Syntax
- NM_001406775.1:c.1985C>T
- ClinVar RefSeq Alternation Syntax
- NM_001406768.1:c.2447C>T
- ClinVar RefSeq Alternation Syntax
- NM_001406783.1:c.1685C>T
- ClinVar RefSeq Alternation Syntax
- NM_001406772.1:c.2315C>T
- ClinVar RefSeq Alternation Syntax
- NM_001406769.1:c.2315C>T
- ClinVar RefSeq Alternation Syntax
- NM_001406784.1:c.1721C>T
- ClinVar RefSeq Alternation Syntax
- NM_001406787.1:c.1679C>T
- ClinVar RefSeq Alternation Syntax
- NM_020629.2:c.2711C>T
- ClinVar RefSeq Alternation Syntax
- NM_001406774.1:c.2186C>T
- ClinVar RefSeq Alternation Syntax
- NM_001406779.1:c.1814C>T
- ClinVar RefSeq Alternation Syntax
- NM_001406744.1:c.2711C>T
- ClinVar RefSeq Alternation Syntax
- NM_001406763.1:c.2576C>T
- ClinVar RefSeq Alternation Syntax
- NM_020630.7:c.2711C>T
- ClinVar RefSeq Alternation Syntax
- NM_001355216.2:c.1949C>T
- ClinVar RefSeq Alternation Syntax
- NM_001406791.1:c.1406C>T
- ClinVar RefSeq Alternation Syntax
- NM_020975.6:c.2711C>T
- ClinVar RefSeq Alternation Syntax
- NM_001406792.1:c.1262C>T
- ClinVar RefSeq Alternation Syntax
- NM_001406793.1:c.1262C>T
- ClinVar RefSeq Alternation Syntax
- NM_001406782.1:c.1814C>T
- ClinVar RefSeq Alternation Syntax
- NM_001406794.1:c.1262C>T
- ClinVar RefSeq Alternation Syntax
- NM_000323.2:c.2711C>T
- ClinVar RefSeq Alternation Syntax
- NM_001406765.1:c.2576C>T
- ClinVar RefSeq Alternation Syntax
- NM_001406761.1:c.2582C>T
- ClinVar RefSeq Alternation Syntax
- NM_001406766.1:c.2423C>T
- ClinVar RefSeq Alternation Syntax
- NM_001406759.1:c.2711C>T
- ClinVar RefSeq Alternation Syntax
- NM_001406781.1:c.1814C>T
- ClinVar RefSeq Alternation Syntax
- NM_001406762.1:c.2582C>T
- ClinVar RefSeq Alternation Syntax
- NM_001406785.1:c.1694C>T
- ClinVar RefSeq Alternation Syntax
- NM_001406770.1:c.2423C>T
- ClinVar RefSeq Alternation Syntax
- NM_001406767.1:c.2423C>T
- ClinVar RefSeq Alternation Syntax
- NM_001406790.1:c.1526C>T
- ClinVar RefSeq Alternation Syntax
- NM_001406743.1:c.2711C>T
- ClinVar RefSeq Alternation Syntax
- NM_001406764.1:c.2582C>T
- ClinVar RefSeq Alternation Syntax
- NM_001406771.1:c.2273C>T
- ClinVar RefSeq Alternation Syntax
- NM_001406786.1:c.1685C>T
- ClinVar RefSeq Alternation Syntax
- NM_001406780.1:c.1814C>T
- ClinVar RefSeq Alternation Syntax
- NM_001406773.1:c.2273C>T
- ClinVar RefSeq Alternation Syntax
- NM_001406760.1:c.2711C>T
- ClinVar RefSeq Alternation Syntax
- NM_001406777.1:c.1985C>T
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Last Update
- 2020-11-20
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001267835
- ClinVar Disease
- Multiple endocrine neoplasia type 2A
- Observed Origin Sample
- inherited
Drugs