chr17:7675139:C>A Detail (hg38) (TP53)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr17:7,578,457-7,578,457 View the variant detail on this assembly version. |
hg38 | chr17:7,675,139-7,675,139 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_001276696.1:c.356G>T | NP_001263625.1:p.Arg119Leu |
NM_000546.5:c.473G>T | NP_000537.3:p.Arg158Leu | |
NM_001126112.2:c.473G>T | NP_001119584.1:p.Arg158Leu |
Summary
MGeND
Clinical significance |
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Variant entry | 2 |
GWAS entry | |
Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
ClinVar
Clinical Significance |
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Review star | ![]() |
Show details |
Disease area statistics
MGeND
Clinical significance | Last evaluated | Condition | Origin | Submission ID | Submitter | Institute | Citation | Comment | Image |
---|---|---|---|---|---|---|---|---|---|
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2017/02/20 | carcinoma, non-small-cell lung |
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MGS000014
(TMGS000028) |
Kohei Miyazono | Tokyo University | |||
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2017/06/01 | lung squamous cell carcinoma |
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MGS000017
(TMGS000052) |
Kohei Miyazono | Tokyo University |
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
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2022-09-15 | criteria provided, single submitter | Li-Fraumeni syndrome |
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Detail |
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2021-02-01 | criteria provided, multiple submitters, no conflicts | not provided |
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Detail |
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2024-02-14 | criteria provided, multiple submitters, no conflicts | Li-Fraumeni syndrome 1 |
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Detail |
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2022-06-18 | criteria provided, multiple submitters, no conflicts | Hereditary cancer-predisposing syndrome |
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Detail |
CIViC
DisGeNET
[No Data.]
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
Subset of 58 cancer cell lines with unaltered TP53 is sensitive to MDM2 Inhibitor AMGMDS3. None of 1... | CIViC Evidence | Detail |
NM_000546.6(TP53):c.473G>T (p.Arg158Leu) AND Li-Fraumeni syndrome | ClinVar | Detail |
NM_000546.6(TP53):c.473G>T (p.Arg158Leu) AND not provided | ClinVar | Detail |
NM_000546.6(TP53):c.473G>T (p.Arg158Leu) AND Li-Fraumeni syndrome 1 | ClinVar | Detail |
NM_000546.6(TP53):c.473G>T (p.Arg158Leu) AND Hereditary cancer-predisposing syndrome | ClinVar | Detail |
Overlapped Transcript Coordinates
Gene | Transcript ID | Exon Number | Chromosome | Start | Stop | Type | Amino Mutation | Transcript Position | Links |
---|
Overlapped Transcript
Gene | Transcript ID | Chromosome | Start | Stop | Links |
---|
- Gene
- -
- dbSNP
- rs587782144 dbSNP
- Genome
- hg38
- Position
- chr17:7,675,139-7,675,139
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- A
- Variant (CIViC) (CIViC Variant)
- R158L
- Transcript 1 (CIViC Variant)
- ENST00000269305.4
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/1699
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