chr17:7578389:G>A Detail (hg19) (TP53)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr17:7,578,389-7,578,389 |
hg38 | chr17:7,675,071-7,675,071 View the variant detail on this assembly version. |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_000546.5:c.541C>T | NP_000537.3:p.Arg181Cys |
NM_001126112.2:c.541C>T | NP_001119584.1:p.Arg181Cys | |
NM_001276760.1:c.541C>T | NP_001263689.1:p.Arg181Cys |
Summary
MGeND
Clinical significance |
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Variant entry | 10 |
GWAS entry | |
Disease area statistics | Show details |
Frequency
[No Data.]
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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bronchus or lung, unspecified |
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MGS000041
(TMGS000094) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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upper third of oesophagus |
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MGS000040
(TMGS000095) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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ascending colon |
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MGS000040
(TMGS000095) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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malignant neoplasm of rectum |
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MGS000040
(TMGS000095) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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ill-defined sites within the digestive system |
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MGS000040
(TMGS000095) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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stomach, unspecified |
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MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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ascending colon |
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MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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oesophagus, unspecified |
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MGS000041
(TMGS000094) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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malignant neoplasm of rectum |
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MGS000041
(TMGS000094) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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liver cell carcinoma |
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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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2023-02-14 | criteria provided, multiple submitters, no conflicts | Hereditary cancer-predisposing syndrome |
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Detail |
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2023-10-03 | criteria provided, single submitter | Li-Fraumeni syndrome |
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Detail |
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2021-07-01 | criteria provided, single submitter | not provided |
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Detail |
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2023-05-03 | criteria provided, single submitter | Adrenocortical carcinoma, hereditary |
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Detail |
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2024-05-06 | criteria provided, single submitter | Familial cancer of breast |
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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 |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_000546.6(TP53):c.541C>T (p.Arg181Cys) AND Hereditary cancer-predisposing syndrome | ClinVar | Detail |
NM_000546.6(TP53):c.541C>T (p.Arg181Cys) AND Li-Fraumeni syndrome | ClinVar | Detail |
NM_000546.6(TP53):c.541C>T (p.Arg181Cys) AND not provided | ClinVar | Detail |
NM_000546.6(TP53):c.541C>T (p.Arg181Cys) AND Adrenocortical carcinoma, hereditary | ClinVar | Detail |
NM_000546.6(TP53):c.541C>T (p.Arg181Cys) AND Familial cancer of breast | ClinVar | 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
- rs587782596 dbSNP
- Genome
- hg19
- Position
- chr17:7,578,389-7,578,389
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
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