chr17:7578388:C>T Detail (hg19) (TP53)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr17:7,578,388-7,578,388 |
hg38 | chr17:7,675,070-7,675,070 View the variant detail on this assembly version. |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_001126116.1:c.146G>A | NP_001119588.1:p.Arg49His |
NM_001276698.1:c.146G>A | NP_001263627.1:p.Arg49His | |
NM_001126113.2:c.542G>A | NP_001119585.1:p.Arg181His |
Summary
MGeND
Clinical significance |
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Variant entry | 7 |
GWAS entry | |
Disease area statistics | Show details |
Frequency
JP | HGVD:[No Data.] |
ToMMo:[No Data.] | |
NCBN:[No Data.] | |
NCBN(Hondo):[No Data.] | |
NCBN(Ryukyu):[No Data.] | |
East asia | ExAC:<0.001 |
Prediction
ClinVar
Clinical Significance | Conflicting classifications of pathogenicity |
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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2020/04/20 | malignant neoplasm of rectosigmoid junction |
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MGS000040
(TMGS000095) |
Hitoshi Nakagama | National Cancer Center Japan | |||
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2020/04/20 | malignant neoplasm of rectum |
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MGS000040
(TMGS000095) |
Hitoshi Nakagama | National Cancer Center Japan | |||
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2020/04/20 | anal canal |
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MGS000040
(TMGS000095) |
Hitoshi Nakagama | National Cancer Center Japan | |||
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2020/04/20 | liver cell carcinoma |
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MGS000040
(TMGS000095) |
Hitoshi Nakagama | National Cancer Center Japan | |||
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2020/04/20 | bronchus or lung, unspecified |
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MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | |||
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2020/04/20 | anal canal |
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MGS000041
(TMGS000094) |
Hitoshi Nakagama | National Cancer Center Japan |
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
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2023-07-28 | criteria provided, conflicting interpretations | Hereditary cancer-predisposing syndrome |
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Detail |
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2024-01-25 | criteria provided, multiple submitters, no conflicts | Li-Fraumeni syndrome |
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Detail |
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2023-08-15 | criteria provided, multiple submitters, no conflicts | not provided |
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Detail |
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2023-09-08 | criteria provided, multiple submitters, no conflicts | Li-Fraumeni syndrome 1 |
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Detail |
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2019-05-28 | criteria provided, single submitter | Squamous cell carcinoma of the head and neck |
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Detail |
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2021-03-04 | no assertion criteria provided | Carcinoma of pancreas |
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Detail |
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2021-03-19 | no assertion criteria provided | Familial cancer of breast |
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Detail |
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2023-09-10 | criteria provided, single submitter | Adrenocortical carcinoma, hereditary |
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Detail |
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.122 | Neoplastic Syndromes, Hereditary | NA | CLINVAR | Detail | |
0.369 | Li-Fraumeni syndrome | NA | CLINVAR | Detail | |
0.120 | Glioma susceptibility 1 | NA | CLINVAR | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_000546.6(TP53):c.542G>A (p.Arg181His) AND Hereditary cancer-predisposing syndrome | ClinVar | Detail |
NM_000546.6(TP53):c.542G>A (p.Arg181His) AND Li-Fraumeni syndrome | ClinVar | Detail |
NM_000546.6(TP53):c.542G>A (p.Arg181His) AND not provided | ClinVar | Detail |
NM_000546.6(TP53):c.542G>A (p.Arg181His) AND Li-Fraumeni syndrome 1 | ClinVar | Detail |
NM_000546.6(TP53):c.542G>A (p.Arg181His) AND Squamous cell carcinoma of the head and neck | ClinVar | Detail |
NM_000546.6(TP53):c.542G>A (p.Arg181His) AND Carcinoma of pancreas | ClinVar | Detail |
NM_000546.6(TP53):c.542G>A (p.Arg181His) AND Familial cancer of breast | ClinVar | Detail |
NM_000546.6(TP53):c.542G>A (p.Arg181His) AND Adrenocortical carcinoma, hereditary | ClinVar | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | 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
- rs397514495 dbSNP
- Genome
- hg19
- Position
- chr17:7,578,388-7,578,388
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
- East Asian Chromosome Counts (ExAC)
- 8652
- East Asian Allele Counts (ExAC)
- 0
- East Asian Heterozygous Counts (ExAC)
- 0
- East Asian Homozygous Counts (ExAC)
- 0
- East Asian Allele Frequency (ExAC)
- 0.0
- Chromosome Counts in All Race (ExAC)
- 121316
- Allele Counts in All Race (ExAC)
- 2
- Heterozygous Counts in All Race (ExAC)
- 2
- Homozygous Counts in All Race (ExAC)
- 0
- Allele Frequency in All Race (ExAC)
- 1.6485871608031917E-5
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