Annotation Detail
Information
- Associated Genes
- TXNRD2
- Associated Variants
-
TXNRD2 c.1275+163G>C
(
ENST00000400518.5,
ENST00000400519.6,
ENST00000400521.7,
ENST00000400525.6,
ENST00000462330.5,
ENST00000485358.5,
ENST00000542719.6 )
TXNRD2 c.1275+163G>C ( ENST00000400518.5, ENST00000400519.6, ENST00000400521.7, ENST00000400525.6, ENST00000462330.5, ENST00000485358.5, ENST00000542719.6 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_006440.5(TXNRD2):c.1275+163G>C AND not provided
- ClinVar Allele ID
- 670528
- ClinVar RefSeq Alternation Syntax
- NM_001352302.2:c.987+163G>C
- ClinVar RefSeq Alternation Syntax
- NM_006440.5:c.1275+163G>C
- ClinVar RefSeq Alternation Syntax
- NM_001352301.2:c.1185+163G>C
- ClinVar RefSeq Alternation Syntax
- NM_001352300.2:c.1272+163G>C
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2018-06-16
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000838246
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
Drugs