chr17:7573996:A>G Detail (hg19) (TP53)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr17:7,573,996-7,573,996 |
hg38 | chr17:7,670,678-7,670,678 View the variant detail on this assembly version. |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_000546.5:c.1031T>C | NP_000537.3:p.Leu344Pro |
NM_001126112.2:c.1031T>C | NP_001119584.1:p.Leu344Pro | |
NM_001276760.1:c.1031T>C | NP_001263689.1:p.Leu344Pro |
Summary
MGeND
Clinical significance |
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Variant entry | 1 |
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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bronchus or lung, unspecified |
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MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan |
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
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2024-02-21 | criteria provided, single submitter | Li-Fraumeni syndrome 1 |
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Detail |
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2019-08-28 | reviewed by expert panel | Li-Fraumeni syndrome |
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Detail |
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2015-11-10 | criteria provided, single submitter | Hereditary cancer-predisposing syndrome |
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Detail |
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2021-06-13 | criteria provided, single submitter | Adrenocortical carcinoma, hereditary |
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Detail |
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no assertion criteria provided | Adrenal cortex carcinoma |
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Detail |
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.441 | Li-Fraumeni syndrome 1 | NA | CLINVAR | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_000546.6(TP53):c.1031T>C (p.Leu344Pro) AND Li-Fraumeni syndrome 1 | ClinVar | Detail |
NM_000546.6(TP53):c.1031T>C (p.Leu344Pro) AND Li-Fraumeni syndrome | ClinVar | Detail |
NM_000546.6(TP53):c.1031T>C (p.Leu344Pro) AND Hereditary cancer-predisposing syndrome | ClinVar | Detail |
NM_000546.6(TP53):c.1031T>C (p.Leu344Pro) AND Adrenocortical carcinoma, hereditary | ClinVar | Detail |
NM_000546.6(TP53):c.1031T>C (p.Leu344Pro) AND Adrenal cortex carcinoma | ClinVar | Detail |
NA | DisGeNET | 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
- rs121912662 dbSNP
- Genome
- hg19
- Position
- chr17:7,573,996-7,573,996
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- G
Genome browser