Annotation Detail
Information
- Associated Genes
- RET
- Associated Variants
-
RET p.Val292Met (p.V292M)
(
ENST00000713926.1,
ENST00000355710.8,
ENST00000340058.6,
ENST00000615310.5 )
RET p.Val292Met (p.V292M) ( ENST00000340058.6, ENST00000355710.8, ENST00000615310.5, ENST00000713926.1 ) - Associated Disease
- multiple endocrine neoplasia type 2B
- Source Database
- ClinVar
- Description
- NM_020975.6(RET):c.874G>A (p.Val292Met) AND Multiple endocrine neoplasia type 2B
- ClinVar Allele ID
- 36221
- ClinVar RefSeq Alternation Syntax
- NM_001406768.1:c.745G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406761.1:c.745G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406766.1:c.586G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406763.1:c.874G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406765.1:c.874G>A
- ClinVar RefSeq Alternation Syntax
- NM_020629.2:c.874G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406767.1:c.586G>A
- ClinVar RefSeq Alternation Syntax
- NM_020630.7:c.874G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406743.1:c.874G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406762.1:c.745G>A
- ClinVar RefSeq Alternation Syntax
- NM_000323.2:c.874G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406759.1:c.874G>A
- ClinVar RefSeq Alternation Syntax
- NM_001355216.2:c.112G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406764.1:c.745G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406760.1:c.874G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406770.1:c.586G>A
- ClinVar RefSeq Alternation Syntax
- NM_020975.6:c.874G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406744.1:c.874G>A
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2018-11-21
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000755685
- ClinVar Disease
- Multiple endocrine neoplasia type 2B
- Observed Origin Sample
- unknown
Drugs