Annotation Detail
Information
- Associated Genes
- TXNRD2
- Associated Variants
-
TXNRD2 p.Ala66Ser (p.A66S)
(
ENST00000334363.14,
ENST00000400518.5,
ENST00000400519.6,
ENST00000400521.7,
ENST00000400525.6,
ENST00000491939.6,
ENST00000542719.6 )
TXNRD2 p.Ala66Ser (p.A66S) ( ENST00000334363.14, ENST00000400518.5, ENST00000400519.6, ENST00000400521.7, ENST00000400525.6, ENST00000491939.6, ENST00000542719.6 ) - Associated Disease
- not specified
- Source Database
- ClinVar
- Description
- NM_006440.5(TXNRD2):c.196G>T (p.Ala66Ser) AND not specified
- ClinVar Allele ID
- 259137
- ClinVar RefSeq Alternation Syntax
- NM_001352302.2:c.-93G>T
- ClinVar RefSeq Alternation Syntax
- NM_001352303.2:c.100G>T
- ClinVar RefSeq Alternation Syntax
- NM_006440.5:c.196G>T
- ClinVar RefSeq Alternation Syntax
- NM_001352301.2:c.106G>T
- ClinVar RefSeq Alternation Syntax
- NM_001282512.3:c.196G>T
- ClinVar RefSeq Alternation Syntax
- NM_001352300.2:c.193G>T
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2016-09-23
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000445075
- ClinVar Disease
- not specified
- Observed Origin Sample
- germline
Drugs