Annotation Detail
Information
- Associated Genes
- TP73
- Associated Variants
-
TP73 c.-20C>T
(
ENST00000378295.9,
ENST00000713572.1,
ENST00000354437.8,
ENST00000603362.6,
ENST00000604074.5,
ENST00000604479.6,
ENST00000713570.1 )
TP73 c.-20C>T ( ENST00000354437.8, ENST00000378295.9, ENST00000603362.6, ENST00000604074.5, ENST00000604479.6, ENST00000713570.1, ENST00000713572.1 ) - Associated Disease
- Ciliary dyskinesia, primary, 47, and lissencephaly
- Source Database
- ClinVar
- Description
- NM_005427.4(TP73):c.-20C>T AND Ciliary dyskinesia, primary, 47, and lissencephaly
- ClinVar Allele ID
- 2753215
- ClinVar RefSeq Alternation Syntax
- NM_005427.4:c.-20C>T
- ClinVar RefSeq Alternation Syntax
- NM_001204186.2:c.-20C>T
- ClinVar RefSeq Alternation Syntax
- NM_001204187.2:c.-20C>T
- ClinVar RefSeq Alternation Syntax
- NM_001204185.2:c.-20C>T
- ClinVar RefSeq Alternation Syntax
- NM_001204188.2:c.-20C>T
- ClinVar RefSeq Alternation Syntax
- NM_001204184.2:c.-20C>T
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2023-04-11
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV003341573
- ClinVar Disease
- Ciliary dyskinesia, primary, 47, and lissencephaly
- Observed Origin Sample
- germline
Drugs