Annotation Detail

Information
Associated Genes
CTNNB1 LOC126806658
Associated Variants
CTNNB1 p.Asp32His (p.D32H) ( ENST00000405570.6, ENST00000441708.2, ENST00000433400.6, ENST00000396185.8, ENST00000453024.6, ENST00000450969.6, ENST00000431914.6, ENST00000349496.11, ENST00000396183.7, ENST00000646174.1, ENST00000646369.1, ENST00000646381.1, ENST00000646725.1, ENST00000647264.1, ENST00000647390.1, 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, ENST00000647413.2, ENST00000715148.1, ENST00000715149.1, ENST00000715151.1 )
CTNNB1 p.Asp32His (p.D32H) ( ENST00000644138.1, ENST00000643297.1, ENST00000643541.1, ENST00000643977.1, ENST00000643992.1, ENST00000349496.11, ENST00000396183.7, ENST00000396185.8, ENST00000405570.6, ENST00000431914.6, ENST00000433400.6, ENST00000441708.2, ENST00000450969.6, ENST00000453024.6, ENST00000642248.1, ENST00000642315.1, ENST00000642426.1, ENST00000642836.1, ENST00000642886.1, ENST00000642986.1, ENST00000642992.1, ENST00000643031.1, 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
prostate adenocarcinoma
Source Database
ClinVar
Description
NM_001904.4(CTNNB1):c.94G>C (p.Asp32His) AND Prostate adenocarcinoma
ClinVar Allele ID
362933
ClinVar RefSeq Alternation Syntax
NM_001330729.2:c.73G>C
ClinVar RefSeq Alternation Syntax
NM_001098210.2:c.94G>C
ClinVar RefSeq Alternation Syntax
NM_001904.4:c.94G>C
ClinVar RefSeq Alternation Syntax
NM_001098209.2:c.94G>C
Clinical Significance Description
Likely pathogenic
Clinical Significance Last Update
2016-05-31
Clinical Significance Review Status
no assertion criteria provided
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV000439366
ClinVar Disease
Prostate adenocarcinoma
Observed Origin Sample
somatic
Drugs