Annotation Detail
Information
- Associated Genes
- RET
- Associated Variants
-
RET p.Arg114His (p.R114H)
(
ENST00000340058.6,
ENST00000355710.8,
ENST00000615310.5,
ENST00000638465.2,
ENST00000640619.2,
ENST00000683278.2,
ENST00000684216.2,
ENST00000713926.1 )
RET p.Arg114His (p.R114H) ( ENST00000340058.6, ENST00000355710.8, ENST00000615310.5, ENST00000638465.2, ENST00000640619.2, ENST00000683278.2, ENST00000684216.2, ENST00000713926.1 ) - Associated Disease
- multiple endocrine neoplasia type 2B
- Source Database
- ClinVar
- Description
- NM_020975.6(RET):c.341G>A (p.Arg114His) AND Multiple endocrine neoplasia type 2B
- ClinVar Allele ID
- 28986
- ClinVar RefSeq Alternation Syntax
- NM_001406771.1:c.341G>A
- ClinVar RefSeq Alternation Syntax
- NM_000323.2:c.341G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406763.1:c.341G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406769.1:c.341G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406773.1:c.341G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406744.1:c.341G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406781.1:c.341G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406787.1:c.341G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406779.1:c.341G>A
- ClinVar RefSeq Alternation Syntax
- NM_020975.6:c.341G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406780.1:c.341G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406785.1:c.341G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406760.1:c.341G>A
- ClinVar RefSeq Alternation Syntax
- NM_020629.2:c.341G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406765.1:c.341G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406759.1:c.341G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406772.1:c.341G>A
- ClinVar RefSeq Alternation Syntax
- NM_020630.7:c.341G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406743.1:c.341G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406782.1:c.341G>A
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2018-11-21
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000755684
- ClinVar Disease
- Multiple endocrine neoplasia type 2B
- Observed Origin Sample
- unknown
Drugs