Annotation Detail
Information
- Associated Genes
- CDKN1A
- Associated Variants
-
CDKN1A p.Ser31= (p.S31=)
(
ENST00000244741.10,
ENST00000373711.3,
ENST00000405375.5,
ENST00000448526.6,
ENST00000615513.4 )
CDKN1A p.Ser31= (p.S31=) ( ENST00000244741.10, ENST00000373711.3, ENST00000405375.5, ENST00000448526.6, ENST00000615513.4 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_000389.5(CDKN1A):c.93C>T (p.Ser31=) AND not provided
- ClinVar Allele ID
- 2822987
- ClinVar RefSeq Alternation Syntax
- NM_001374509.1:c.195C>T
- ClinVar RefSeq Alternation Syntax
- NM_001374513.1:c.93C>T
- ClinVar RefSeq Alternation Syntax
- NM_078467.3:c.93C>T
- ClinVar RefSeq Alternation Syntax
- NM_001374510.1:c.132C>T
- ClinVar RefSeq Alternation Syntax
- NM_001374511.1:c.93C>T
- ClinVar RefSeq Alternation Syntax
- NM_001374512.1:c.93C>T
- ClinVar RefSeq Alternation Syntax
- NM_000389.5:c.93C>T
- ClinVar RefSeq Alternation Syntax
- NM_001220778.2:c.93C>T
- ClinVar RefSeq Alternation Syntax
- NM_001220777.2:c.93C>T
- ClinVar RefSeq Alternation Syntax
- NM_001291549.3:c.195C>T
- Clinical Significance Description
- Likely benign
- Clinical Significance Last Update
- 2024-04-01
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV003428841
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
Drugs