Annotation Detail
Information
- Associated Genes
- CDKN1A
- Associated Variants
-
CDKN1A p.Ser31Arg (p.S31R)
(
ENST00000244741.10,
ENST00000373711.3,
ENST00000405375.5,
ENST00000448526.6,
ENST00000615513.4 )
CDKN1A p.Ser31Arg (p.S31R) ( ENST00000244741.10, ENST00000373711.3, ENST00000405375.5, ENST00000448526.6, ENST00000615513.4 ) - Associated Disease
- CIP1/WAF1 TUMOR-ASSOCIATED POLYMORPHISM 1
- Source Database
- ClinVar
- Description
- NM_000389.5(CDKN1A):c.93C>A (p.Ser31Arg) AND CIP1/WAF1 TUMOR-ASSOCIATED POLYMORPHISM 1
- ClinVar Allele ID
- 32604
- ClinVar RefSeq Alternation Syntax
- NM_001374509.1:c.195C>A
- ClinVar RefSeq Alternation Syntax
- NM_001374513.1:c.93C>A
- ClinVar RefSeq Alternation Syntax
- NM_001220778.2:c.93C>A
- ClinVar RefSeq Alternation Syntax
- NM_001374511.1:c.93C>A
- ClinVar RefSeq Alternation Syntax
- NM_078467.3:c.93C>A
- ClinVar RefSeq Alternation Syntax
- NM_001220777.2:c.93C>A
- ClinVar RefSeq Alternation Syntax
- NM_000389.5:c.93C>A
- ClinVar RefSeq Alternation Syntax
- NM_001291549.3:c.195C>A
- ClinVar RefSeq Alternation Syntax
- NM_001374510.1:c.132C>A
- ClinVar RefSeq Alternation Syntax
- NM_001374512.1:c.93C>A
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 1996-07-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000019125
- ClinVar Disease
- CIP1/WAF1 TUMOR-ASSOCIATED POLYMORPHISM 1
- Observed Origin Sample
- unknown
- Pubmed
- 7655464
- Pubmed
- 8807325
- Pubmed
- 8084608
Drugs