Annotation Detail
Information
- Associated Genes
- CTNNB1
- Associated Variants
-
CTNNB1 c.*555T>G
(
ENST00000349496.11,
ENST00000396183.7,
ENST00000396185.8,
ENST00000405570.6,
ENST00000431914.6,
ENST00000433400.6,
ENST00000450969.6,
ENST00000453024.6,
ENST00000642248.1,
ENST00000642315.1,
ENST00000642426.1,
ENST00000642836.1,
ENST00000642886.1,
ENST00000642986.1,
ENST00000642992.1,
ENST00000643031.1,
ENST00000643297.1,
ENST00000643541.1,
ENST00000643977.1,
ENST00000643992.1,
ENST00000644524.1,
ENST00000644867.1,
ENST00000644873.1,
ENST00000644906.2,
ENST00000645210.1,
ENST00000645276.1,
ENST00000645493.1,
ENST00000645900.1,
ENST00000645982.1,
ENST00000646116.1,
ENST00000646369.1,
ENST00000646381.1,
ENST00000646725.1,
ENST00000647390.1,
ENST00000647413.2,
ENST00000715148.1,
ENST00000715149.1,
ENST00000715151.1 )
CTNNB1 c.*555T>G ( ENST00000349496.11, ENST00000396183.7, ENST00000396185.8, ENST00000405570.6, ENST00000431914.6, ENST00000433400.6, ENST00000450969.6, ENST00000453024.6, ENST00000642248.1, ENST00000642315.1, ENST00000642426.1, ENST00000642836.1, ENST00000642886.1, ENST00000642986.1, ENST00000642992.1, ENST00000643031.1, ENST00000643297.1, ENST00000643541.1, ENST00000643977.1, ENST00000643992.1, ENST00000644524.1, ENST00000644867.1, ENST00000644873.1, ENST00000644906.2, ENST00000645210.1, ENST00000645276.1, ENST00000645493.1, ENST00000645900.1, ENST00000645982.1, ENST00000646116.1, ENST00000646369.1, ENST00000646381.1, ENST00000646725.1, ENST00000647390.1, ENST00000647413.2, ENST00000715148.1, ENST00000715149.1, ENST00000715151.1 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_001904.4(CTNNB1):c.*555T>G AND not provided
- ClinVar Allele ID
- 1226093
- ClinVar RefSeq Alternation Syntax
- NM_001330729.2:c.*250T>G
- ClinVar RefSeq Alternation Syntax
- NM_001904.4:c.*555T>G
- ClinVar RefSeq Alternation Syntax
- NM_001098210.2:c.*91T>G
- ClinVar RefSeq Alternation Syntax
- NM_001098209.2:c.*250T>G
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2020-02-17
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001619311
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
Drugs