Annotation Detail
Information
- Associated Genes
- TP63
- Associated Variants
-
TP63 p.Arg318His (p.R318H)
(
ENST00000354600.10,
ENST00000392460.7,
ENST00000392461.7,
ENST00000392463.6,
ENST00000418709.6,
ENST00000437221.5,
ENST00000440651.6,
ENST00000449992.5,
ENST00000456148.1,
ENST00000264731.8,
ENST00000320472.9 )
TP63 p.Arg318His (p.R318H) ( ENST00000264731.8, ENST00000320472.9, ENST00000354600.10, ENST00000392460.7, ENST00000392461.7, ENST00000392463.6, ENST00000418709.6, ENST00000437221.5, ENST00000440651.6, ENST00000449992.5, ENST00000456148.1 ) - Associated Disease
- ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3
- Source Database
- ClinVar
- Description
- NM_003722.5(TP63):c.953G>A (p.Arg318His) AND Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3
- ClinVar Allele ID
- 21572
- ClinVar RefSeq Alternation Syntax
- NM_001329150.2:c.416G>A
- ClinVar RefSeq Alternation Syntax
- NM_001114981.2:c.671G>A
- ClinVar RefSeq Alternation Syntax
- NM_001329149.2:c.671G>A
- ClinVar RefSeq Alternation Syntax
- NM_001329145.2:c.671G>A
- ClinVar RefSeq Alternation Syntax
- NM_001114979.2:c.953G>A
- ClinVar RefSeq Alternation Syntax
- NM_001329964.2:c.947G>A
- ClinVar RefSeq Alternation Syntax
- NM_001114978.2:c.953G>A
- ClinVar RefSeq Alternation Syntax
- NM_001114982.2:c.671G>A
- ClinVar RefSeq Alternation Syntax
- NM_001329144.2:c.953G>A
- ClinVar RefSeq Alternation Syntax
- NM_001329146.2:c.416G>A
- ClinVar RefSeq Alternation Syntax
- NM_001114980.2:c.671G>A
- ClinVar RefSeq Alternation Syntax
- NM_001329148.2:c.953G>A
- ClinVar RefSeq Alternation Syntax
- NM_003722.5:c.953G>A
- Clinical Significance Description
- Pathogenic/Likely pathogenic
- Clinical Significance Last Update
- 2022-03-22
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000006906
- ClinVar Disease
- Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3
- Observed Origin Sample
- germline
- Pubmed
- 12939657
- Pubmed
- 10839977
Drugs