Annotation Detail
Information
- Associated Genes
- TP63
- Associated Variants
-
TP63 c.62+6895T>C
(
ENST00000264731.8,
ENST00000320472.9,
ENST00000392460.7,
ENST00000418709.6,
ENST00000440651.6 )
TP63 c.62+6895T>C ( ENST00000264731.8, ENST00000320472.9, ENST00000392460.7, ENST00000418709.6, ENST00000440651.6 ) - Associated Disease
- TP63-Related Spectrum Disorders
- Source Database
- ClinVar
- Description
- NM_003722.5(TP63):c.62+6895T>C AND TP63-Related Spectrum Disorders
- ClinVar Allele ID
- 1154379
- ClinVar RefSeq Alternation Syntax
- NM_001329144.2:c.62+6895T>C
- ClinVar RefSeq Alternation Syntax
- NM_001329964.2:c.56+41234T>C
- ClinVar RefSeq Alternation Syntax
- NM_001114978.2:c.62+6895T>C
- ClinVar RefSeq Alternation Syntax
- NM_001114979.2:c.62+6895T>C
- ClinVar RefSeq Alternation Syntax
- NM_001329148.2:c.62+6895T>C
- ClinVar RefSeq Alternation Syntax
- NM_003722.5:c.62+6895T>C
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2024-02-01
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001510106
- ClinVar Disease
- TP63-Related Spectrum Disorders
- Observed Origin Sample
- germline
Drugs