Annotation Detail
Information
- Associated Genes
- TSHR CEP128
- Associated Variants
-
TSHR c.170+63G>C
(
ENST00000554435.1,
ENST00000642209.1,
ENST00000342443.10,
ENST00000554263.5,
ENST00000541158.6,
ENST00000298171.7 )
TSHR c.170+63G>C ( ENST00000298171.7, ENST00000342443.10, ENST00000541158.6, ENST00000554263.5, ENST00000554435.1, ENST00000642209.1 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_000369.5(TSHR):c.170+63G>C AND not provided
- ClinVar Allele ID
- 1223937
- ClinVar RefSeq Alternation Syntax
- NM_001018036.3:c.170+63G>C
- ClinVar RefSeq Alternation Syntax
- NM_000369.5:c.170+63G>C
- ClinVar RefSeq Alternation Syntax
- NM_001142626.3:c.170+63G>C
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2018-11-12
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001621586
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
Drugs