chr17:7673704:G>A Detail (hg38) (TP53)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr17:7,577,022-7,577,022 View the variant detail on this assembly version. |
hg38 | chr17:7,673,704-7,673,704 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_000546.5:c.916C>T | NP_000537.3:p.Arg306Ter |
NM_001126112.2:c.916C>T | NP_001119584.1:p.Arg306Ter | |
NM_001276760.1:c.916C>T | NP_001263689.1:p.Arg306Ter |
Summary
MGeND
Clinical significance |
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Variant entry | 6 |
GWAS entry | |
Disease area statistics | Show details |
Disease area statistics
MGeND
Clinical significance | Last evaluated | Condition | Origin | Submission ID | Submitter | Institute | Citation | Comment | Image |
---|---|---|---|---|---|---|---|---|---|
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2021/08/16 | bone and articular cartilage, unspecified |
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MGS000029
(TMGS000133) |
Hitoshi Nakagama | National Cancer Center Japan | |||
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2021/08/16 | colon, unspecified |
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MGS000029
(TMGS000133) |
Hitoshi Nakagama | National Cancer Center Japan | |||
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2021/08/16 | connective and soft tissue, unspecified |
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MGS000029
(TMGS000133) |
Hitoshi Nakagama | National Cancer Center Japan | |||
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2021/08/16 | li-fraumeni syndrome |
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MGS000029
(TMGS000133) |
Hitoshi Nakagama | National Cancer Center Japan | |||
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2018/02/08 | colon cancer (dissemination) |
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MGS000017
(TMGS000052) |
Kohei Miyazono | Tokyo University | |||
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salivary gland neoplasms |
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MGS000044
(TMGS000097) |
Kohei Miyazono | Tokyo University |
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
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2022-06-18 | criteria provided, multiple submitters, no conflicts | Hereditary cancer-predisposing syndrome |
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Detail |
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2023-12-11 | criteria provided, multiple submitters, no conflicts | Li-Fraumeni syndrome |
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Detail |
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2021-11-03 | criteria provided, multiple submitters, no conflicts | not provided |
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Detail |
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2015-07-14 | no assertion criteria provided | Head and neck neoplasm |
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Detail |
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2015-07-14 | no assertion criteria provided | Neoplasm of the large intestine |
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Detail |
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2018-12-01 | no assertion criteria provided | Neoplasm of ovary |
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Detail |
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2019-04-30 | no assertion criteria provided | Lip and oral cavity carcinoma |
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Detail |
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2022-06-18 | criteria provided, multiple submitters, no conflicts | Li-Fraumeni syndrome 1 |
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Detail |
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2021-11-01 | criteria provided, single submitter | hereditary breast ovarian cancer syndrome |
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Detail |
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2021-07-01 | no assertion criteria provided | Gastric cancer |
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Detail |
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no assertion criteria provided | lung adenocarcinoma |
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Detail |
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.122 | Neoplastic Syndromes, Hereditary | NA | CLINVAR | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_000546.6(TP53):c.916C>T (p.Arg306Ter) AND Hereditary cancer-predisposing syndrome | ClinVar | Detail |
NM_000546.6(TP53):c.916C>T (p.Arg306Ter) AND Li-Fraumeni syndrome | ClinVar | Detail |
NM_000546.6(TP53):c.916C>T (p.Arg306Ter) AND not provided | ClinVar | Detail |
NM_000546.6(TP53):c.916C>T (p.Arg306Ter) AND Head and neck neoplasm | ClinVar | Detail |
NM_000546.6(TP53):c.916C>T (p.Arg306Ter) AND Neoplasm of the large intestine | ClinVar | Detail |
NM_000546.6(TP53):c.916C>T (p.Arg306Ter) AND Neoplasm of ovary | ClinVar | Detail |
NM_000546.6(TP53):c.916C>T (p.Arg306Ter) AND Lip and oral cavity carcinoma | ClinVar | Detail |
NM_000546.6(TP53):c.916C>T (p.Arg306Ter) AND Li-Fraumeni syndrome 1 | ClinVar | Detail |
NM_000546.6(TP53):c.916C>T (p.Arg306Ter) AND Hereditary breast ovarian cancer syndrome | ClinVar | Detail |
NM_000546.6(TP53):c.916C>T (p.Arg306Ter) AND Gastric cancer | ClinVar | Detail |
NM_000546.6(TP53):c.916C>T (p.Arg306Ter) AND Lung adenocarcinoma | 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
- rs121913344 dbSNP
- Genome
- hg38
- Position
- chr17:7,673,704-7,673,704
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
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