Annotation Detail
Information
- Associated Genes
- RET
- Associated Variants
-
RET p.Arg912Pro (p.R912P)
(
ENST00000713926.1,
ENST00000340058.6,
ENST00000615310.5,
ENST00000355710.8 )
RET p.Arg912Pro (p.R912P) ( ENST00000340058.6, ENST00000355710.8, ENST00000615310.5, ENST00000713926.1 ) - Associated Disease
- familial medullary thyroid carcinoma
- Source Database
- ClinVar
- Description
- NM_020975.6(RET):c.2735G>C (p.Arg912Pro) AND Familial medullary thyroid carcinoma
- ClinVar Allele ID
- 36309
- ClinVar RefSeq Alternation Syntax
- NM_001406744.1:c.2735G>C
- ClinVar RefSeq Alternation Syntax
- NM_001406786.1:c.1709G>C
- ClinVar RefSeq Alternation Syntax
- NM_001406776.1:c.2009G>C
- ClinVar RefSeq Alternation Syntax
- NM_001406792.1:c.1286G>C
- ClinVar RefSeq Alternation Syntax
- NM_020975.6:c.2735G>C
- ClinVar RefSeq Alternation Syntax
- NM_001406760.1:c.2735G>C
- ClinVar RefSeq Alternation Syntax
- NM_001406780.1:c.1838G>C
- ClinVar RefSeq Alternation Syntax
- NM_001406759.1:c.2735G>C
- ClinVar RefSeq Alternation Syntax
- NM_001406777.1:c.2009G>C
- ClinVar RefSeq Alternation Syntax
- NM_001406768.1:c.2471G>C
- ClinVar RefSeq Alternation Syntax
- NM_001406793.1:c.1286G>C
- ClinVar RefSeq Alternation Syntax
- NM_001406778.1:c.2009G>C
- ClinVar RefSeq Alternation Syntax
- NM_001406787.1:c.1703G>C
- ClinVar RefSeq Alternation Syntax
- NM_001406781.1:c.1838G>C
- ClinVar RefSeq Alternation Syntax
- NM_001406782.1:c.1838G>C
- ClinVar RefSeq Alternation Syntax
- NM_020629.2:c.2735G>C
- ClinVar RefSeq Alternation Syntax
- NM_001406788.1:c.1550G>C
- ClinVar RefSeq Alternation Syntax
- NM_001406789.1:c.1550G>C
- ClinVar RefSeq Alternation Syntax
- NM_000323.2:c.2735G>C
- ClinVar RefSeq Alternation Syntax
- NM_001406775.1:c.2009G>C
- ClinVar RefSeq Alternation Syntax
- NM_001406770.1:c.2447G>C
- ClinVar RefSeq Alternation Syntax
- NM_001406743.1:c.2735G>C
- ClinVar RefSeq Alternation Syntax
- NM_001406769.1:c.2339G>C
- ClinVar RefSeq Alternation Syntax
- NM_001406773.1:c.2297G>C
- ClinVar RefSeq Alternation Syntax
- NM_001406762.1:c.2606G>C
- ClinVar RefSeq Alternation Syntax
- NM_001406764.1:c.2606G>C
- ClinVar RefSeq Alternation Syntax
- NM_001406785.1:c.1718G>C
- ClinVar RefSeq Alternation Syntax
- NM_001406771.1:c.2297G>C
- ClinVar RefSeq Alternation Syntax
- NM_001406779.1:c.1838G>C
- ClinVar RefSeq Alternation Syntax
- NM_001406791.1:c.1430G>C
- ClinVar RefSeq Alternation Syntax
- NM_020630.7:c.2735G>C
- ClinVar RefSeq Alternation Syntax
- NM_001406761.1:c.2606G>C
- ClinVar RefSeq Alternation Syntax
- NM_001406767.1:c.2447G>C
- ClinVar RefSeq Alternation Syntax
- NM_001406774.1:c.2210G>C
- ClinVar RefSeq Alternation Syntax
- NM_001406794.1:c.1286G>C
- ClinVar RefSeq Alternation Syntax
- NM_001406790.1:c.1550G>C
- ClinVar RefSeq Alternation Syntax
- NM_001406766.1:c.2447G>C
- ClinVar RefSeq Alternation Syntax
- NM_001406763.1:c.2600G>C
- ClinVar RefSeq Alternation Syntax
- NM_001406772.1:c.2339G>C
- ClinVar RefSeq Alternation Syntax
- NM_001406765.1:c.2600G>C
- ClinVar RefSeq Alternation Syntax
- NM_001406783.1:c.1709G>C
- ClinVar RefSeq Alternation Syntax
- NM_001406784.1:c.1745G>C
- ClinVar RefSeq Alternation Syntax
- NM_001355216.2:c.1973G>C
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2004-07-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000014981
- ClinVar Disease
- Familial medullary thyroid carcinoma
- Observed Origin Sample
- germline
- Pubmed
- 15240641
Drugs