Annotation Detail
Information
- Associated Genes
- TP63
- Associated Variants
-
TP63 p.Ile549Thr (p.I549T)
(
ENST00000264731.8,
ENST00000320472.9,
ENST00000354600.10,
ENST00000392460.7,
ENST00000392461.7,
ENST00000392463.6,
ENST00000440651.6,
ENST00000449992.5,
ENST00000456148.1 )
TP63 p.Ile549Thr (p.I549T) ( ENST00000264731.8, ENST00000320472.9, ENST00000354600.10, ENST00000392460.7, ENST00000392461.7, ENST00000392463.6, ENST00000440651.6, ENST00000449992.5, ENST00000456148.1 ) - Associated Disease
- ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
- Source Database
- ClinVar
- Description
- NM_003722.5(TP63):c.1646T>C (p.Ile549Thr) AND Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
- ClinVar Allele ID
- 21583
- ClinVar RefSeq Alternation Syntax
- NM_001329144.2:c.1507+2927T>C
- ClinVar RefSeq Alternation Syntax
- NM_001329148.2:c.1634T>C
- ClinVar RefSeq Alternation Syntax
- NM_001329964.2:c.1640T>C
- ClinVar RefSeq Alternation Syntax
- NM_001114981.2:c.1364T>C
- ClinVar RefSeq Alternation Syntax
- NM_001329149.2:c.1213+2927T>C
- ClinVar RefSeq Alternation Syntax
- NM_001114980.2:c.1364T>C
- ClinVar RefSeq Alternation Syntax
- NM_001329146.2:c.1109T>C
- ClinVar RefSeq Alternation Syntax
- NM_003722.5:c.1646T>C
- ClinVar RefSeq Alternation Syntax
- NM_001329145.2:c.1225+2927T>C
- ClinVar RefSeq Alternation Syntax
- NM_001329150.2:c.958+2927T>C
- ClinVar RefSeq Alternation Syntax
- NM_001114978.2:c.1646T>C
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2004-07-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000006918
- ClinVar Disease
- Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
- Observed Origin Sample
- germline
- Pubmed
- 10886756
- Pubmed
- 15200513
Drugs