Annotation Detail
Information
- Associated Genes
- TP53
- Associated Variants
-
TP53 p.Arg110Leu (p.R110L)
(
ENST00000413465.6,
ENST00000420246.6,
ENST00000359597.8,
ENST00000445888.6,
ENST00000269305.9,
ENST00000455263.6,
ENST00000576024.2,
ENST00000604348.6,
ENST00000610292.4,
ENST00000610538.4,
ENST00000619485.4,
ENST00000620739.4,
ENST00000622645.4,
ENST00000714356.1,
ENST00000714357.1,
ENST00000714359.1,
ENST00000714408.1,
ENST00000714409.1 )
TP53 p.Arg110Leu (p.R110L) ( ENST00000455263.6, ENST00000269305.9, ENST00000359597.8, ENST00000413465.6, ENST00000420246.6, ENST00000445888.6, ENST00000576024.2, ENST00000604348.6, ENST00000610292.4, ENST00000610538.4, ENST00000619485.4, ENST00000620739.4, ENST00000622645.4, ENST00000714356.1, ENST00000714357.1, ENST00000714359.1, ENST00000714408.1, ENST00000714409.1 ) - Associated Disease
- Li-Fraumeni syndrome
- Source Database
- ClinVar
- Description
- NM_000546.6(TP53):c.329G>T (p.Arg110Leu) AND Li-Fraumeni syndrome
- ClinVar Allele ID
- 402569
- ClinVar RefSeq Alternation Syntax
- NM_001126113.3:c.329G>T
- ClinVar RefSeq Alternation Syntax
- NM_001276696.3:c.212G>T
- ClinVar RefSeq Alternation Syntax
- NM_001126114.3:c.329G>T
- ClinVar RefSeq Alternation Syntax
- NM_001126112.3:c.329G>T
- ClinVar RefSeq Alternation Syntax
- NM_001276760.3:c.212G>T
- ClinVar RefSeq Alternation Syntax
- NM_001276761.3:c.212G>T
- ClinVar RefSeq Alternation Syntax
- NM_001126118.2:c.212G>T
- ClinVar RefSeq Alternation Syntax
- NM_001276695.3:c.212G>T
- ClinVar RefSeq Alternation Syntax
- NM_000546.6:c.329G>T
- Clinical Significance Description
- Pathogenic/Likely pathogenic
- Clinical Significance Last Update
- 2023-12-30
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000473145
- ClinVar Disease
- Li-Fraumeni syndrome
- Observed Origin Sample
- germline
Drugs