Annotation Detail
Information
- Associated Genes
- TP63
- Associated Variants
-
TP63 p.Arg243Gln (p.R243Q)
(
ENST00000392461.7,
ENST00000392463.6,
ENST00000264731.8,
ENST00000320472.9,
ENST00000354600.10,
ENST00000418709.6,
ENST00000437221.5,
ENST00000440651.6,
ENST00000449992.5,
ENST00000456148.1,
ENST00000392460.7 )
TP63 p.Arg243Gln (p.R243Q) ( ENST00000264731.8, ENST00000320472.9, ENST00000354600.10, ENST00000392460.7, ENST00000392461.7, ENST00000392463.6, ENST00000418709.6, ENST00000437221.5, ENST00000440651.6, ENST00000449992.5, ENST00000456148.1 ) - Associated Disease
- TP63-Related Spectrum Disorders
- Source Database
- ClinVar
- Description
- NM_003722.5(TP63):c.728G>A (p.Arg243Gln) AND TP63-Related Spectrum Disorders
- ClinVar Allele ID
- 21567
- ClinVar RefSeq Alternation Syntax
- NM_001114982.2:c.446G>A
- ClinVar RefSeq Alternation Syntax
- NM_001329145.2:c.446G>A
- ClinVar RefSeq Alternation Syntax
- NM_001329150.2:c.191G>A
- ClinVar RefSeq Alternation Syntax
- NM_001329148.2:c.728G>A
- ClinVar RefSeq Alternation Syntax
- NM_001114980.2:c.446G>A
- ClinVar RefSeq Alternation Syntax
- NM_003722.5:c.728G>A
- ClinVar RefSeq Alternation Syntax
- NM_001114981.2:c.446G>A
- ClinVar RefSeq Alternation Syntax
- NM_001114979.2:c.728G>A
- ClinVar RefSeq Alternation Syntax
- NM_001329964.2:c.722G>A
- ClinVar RefSeq Alternation Syntax
- NM_001114978.2:c.728G>A
- ClinVar RefSeq Alternation Syntax
- NM_001329144.2:c.728G>A
- ClinVar RefSeq Alternation Syntax
- NM_001329149.2:c.446G>A
- ClinVar RefSeq Alternation Syntax
- NM_001329146.2:c.191G>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2023-06-10
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000705452
- ClinVar Disease
- TP63-Related Spectrum Disorders
- Observed Origin Sample
- germline
Drugs