Annotation Detail
Information
- Associated Genes
- DIO2
- Associated Variants
-
DIO2 p.Thr92Ala (p.T92A)
(
ENST00000557010.5,
ENST00000557125.1,
ENST00000438257.9 )
DIO2 p.Thr92Ala (p.T92A) ( ENST00000438257.9, ENST00000557010.5, ENST00000557125.1 ) - Source Database
- ClinVar
- Description
- NM_013989.5(DIO2):c.274A>G (p.Thr92Ala) AND Levothyroxine response
- ClinVar Allele ID
- 2738277
- ClinVar RefSeq Alternation Syntax
- NR_158990.1:n.414A>G
- ClinVar RefSeq Alternation Syntax
- NM_013989.5:c.274A>G
- ClinVar RefSeq Alternation Syntax
- NR_158991.1:n.548A>G
- ClinVar RefSeq Alternation Syntax
- NM_000793.6:c.274A>G
- ClinVar RefSeq Alternation Syntax
- NM_001366496.1:c.274A>G
- ClinVar RefSeq Alternation Syntax
- NM_001324462.2:c.274A>G
- Clinical Significance Description
- other
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV003317018
- Observed Origin Sample
- germline
Drugs