Annotation Detail
Information
- Associated Genes
- TP53
- Associated Variants
-
TP53 p.Ser90ProfsTer33 (p.S90Pfs*33)
(
ENST00000455263.6,
ENST00000413465.6,
ENST00000445888.6,
ENST00000420246.6,
ENST00000714408.1,
ENST00000576024.2,
ENST00000604348.6,
ENST00000610292.4,
ENST00000622645.4,
ENST00000714356.1,
ENST00000610538.4,
ENST00000359597.8,
ENST00000269305.9,
ENST00000619485.4,
ENST00000620739.4,
ENST00000714357.1,
ENST00000714359.1,
ENST00000714409.1 )
TP53 p.Ser90ProfsTer33 (p.S90Pfs*33) ( ENST00000269305.9, ENST00000359597.8, ENST00000413465.6, ENST00000619485.4, ENST00000714359.1, ENST00000714408.1, ENST00000420246.6, ENST00000445888.6, ENST00000455263.6, ENST00000576024.2, ENST00000604348.6, ENST00000610292.4, ENST00000610538.4, ENST00000620739.4, ENST00000622645.4, ENST00000714356.1, ENST00000714357.1, ENST00000714409.1 ) - Associated Disease
- Li-Fraumeni syndrome 1
- Source Database
- ClinVar
- Description
- NM_000546.6(TP53):c.267del (p.Ser90fs) AND Li-Fraumeni syndrome 1
- ClinVar Allele ID
- 166280
- ClinVar RefSeq Alternation Syntax
- NM_001126113.3:c.267del
- ClinVar RefSeq Alternation Syntax
- NM_001126114.3:c.267del
- ClinVar RefSeq Alternation Syntax
- NM_000546.6:c.267del
- ClinVar RefSeq Alternation Syntax
- NM_001276695.3:c.150del
- ClinVar RefSeq Alternation Syntax
- NM_001276696.3:c.150del
- ClinVar RefSeq Alternation Syntax
- NM_001126112.3:c.267del
- ClinVar RefSeq Alternation Syntax
- NM_001276760.3:c.150del
- ClinVar RefSeq Alternation Syntax
- NM_001126118.2:c.150del
- ClinVar RefSeq Alternation Syntax
- NM_001276761.3:c.150del
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2024-02-12
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000144663
- ClinVar Disease
- Li-Fraumeni syndrome 1
- Observed Origin Sample
- germline
- Observed Origin Sample
- unknown
Drugs