Annotation Detail

Information
Associated Genes
TCN2
Associated Variants
TCN2 p.Arg259Pro (p.R259P) ( ENST00000215838.8, ENST00000405742.7, ENST00000407817.3, ENST00000450638.5, ENST00000698263.1, ENST00000698265.1, ENST00000698266.1, ENST00000698268.1, ENST00000698270.1, ENST00000698271.1, ENST00000698272.1, ENST00000698273.1 )
TCN2 p.Arg259Pro (p.R259P) ( ENST00000215838.8, ENST00000405742.7, ENST00000407817.3, ENST00000450638.5, ENST00000698263.1, ENST00000698265.1, ENST00000698266.1, ENST00000698268.1, ENST00000698270.1, ENST00000698271.1, ENST00000698272.1, ENST00000698273.1 )
Associated Disease
not provided
Source Database
ClinVar
Description
NM_000355.4(TCN2):c.776G>C (p.Arg259Pro) AND not provided
ClinVar Allele ID
15136
ClinVar RefSeq Alternation Syntax
NM_000355.4:c.776G>C
ClinVar RefSeq Alternation Syntax
NM_001184726.2:c.695G>C
Clinical Significance Description
Benign
Clinical Significance Last Update
2018-07-25
Clinical Significance Review Status
criteria provided, single submitter
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV001618205
ClinVar Disease
not provided
Observed Origin Sample
germline
Observed Origin Sample
unknown
Drugs