Annotation Detail
Information
- Associated Genes
- CTNNB1 LOC126806658
- Associated Variants
-
CTNNB1 p.Asp32Tyr (p.D32Y)
(
ENST00000450969.6,
ENST00000396185.8,
ENST00000396183.7,
ENST00000433400.6,
ENST00000453024.6,
ENST00000441708.2,
ENST00000431914.6,
ENST00000405570.6,
ENST00000349496.11,
ENST00000642248.1,
ENST00000642315.1,
ENST00000642426.1,
ENST00000642836.1,
ENST00000642886.1,
ENST00000642986.1,
ENST00000642992.1,
ENST00000643031.1,
ENST00000643297.1,
ENST00000643541.1,
ENST00000643977.1,
ENST00000643992.1,
ENST00000644138.1,
ENST00000644524.1,
ENST00000644678.1,
ENST00000644867.1,
ENST00000644873.1,
ENST00000644906.2,
ENST00000645210.1,
ENST00000645276.1,
ENST00000645320.1,
ENST00000645493.1,
ENST00000645900.1,
ENST00000645982.1,
ENST00000646116.1,
ENST00000646174.1,
ENST00000646369.1,
ENST00000646381.1,
ENST00000646725.1,
ENST00000647264.1,
ENST00000647390.1,
ENST00000647413.2,
ENST00000715148.1,
ENST00000715149.1,
ENST00000715151.1 )
CTNNB1 p.Asp32Tyr (p.D32Y) ( ENST00000431914.6, ENST00000433400.6, ENST00000441708.2, ENST00000349496.11, ENST00000396183.7, ENST00000396185.8, ENST00000405570.6, 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, ENST00000644138.1, ENST00000644524.1, ENST00000644678.1, ENST00000644867.1, ENST00000644873.1, ENST00000644906.2, ENST00000645210.1, ENST00000645276.1, ENST00000645320.1, ENST00000645493.1, ENST00000645900.1, ENST00000645982.1, ENST00000646116.1, ENST00000646174.1, ENST00000646369.1, ENST00000646381.1, ENST00000646725.1, ENST00000647264.1, ENST00000647390.1, ENST00000647413.2, ENST00000715148.1, ENST00000715149.1, ENST00000715151.1 ) - Associated Disease
- medulloblastoma
- Source Database
- ClinVar
- Description
- NM_001904.4(CTNNB1):c.94G>T (p.Asp32Tyr) AND Medulloblastoma
- ClinVar Allele ID
- 32620
- ClinVar RefSeq Alternation Syntax
- NM_001330729.2:c.73G>T
- ClinVar RefSeq Alternation Syntax
- NM_001904.4:c.94G>T
- ClinVar RefSeq Alternation Syntax
- NM_001098210.2:c.94G>T
- ClinVar RefSeq Alternation Syntax
- NM_001098209.2:c.94G>T
- Clinical Significance Description
- Likely pathogenic; other
- Clinical Significance Last Update
- 2016-05-31
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000437074
- ClinVar Disease
- Medulloblastoma
- Observed Origin Sample
- somatic
Drugs