chr17:7675994:C>T Detail (hg38) (TP53)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr17:7,579,312-7,579,312 View the variant detail on this assembly version. |
hg38 | chr17:7,675,994-7,675,994 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_000546.5:c.375G>A | NP_000537.3:p.Thr125= |
NM_001126112.2:c.375G>A | NP_001119584.1:p.Thr125= | |
NM_001276760.1:c.375G>A | NP_001263689.1:p.Thr125= |
Summary
MGeND
Clinical significance | |
Variant entry | |
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
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
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2023-12-28 | criteria provided, multiple submitters, no conflicts | Li-Fraumeni syndrome |
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Detail |
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2023-02-21 | criteria provided, multiple submitters, no conflicts | Hereditary cancer-predisposing syndrome |
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Detail |
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2023-07-11 | criteria provided, multiple submitters, no conflicts | not provided |
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Detail |
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2020-09-01 | no assertion criteria provided | rhabdomyosarcoma |
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Detail |
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2019-06-11 | no assertion criteria provided | Breast and/or ovarian cancer |
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Detail |
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2021-03-19 | no assertion criteria provided | Malignant tumor of prostate |
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Detail |
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2020-02-28 | criteria provided, single submitter | Glioma susceptibility 1 |
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Detail |
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2024-02-13 | criteria provided, multiple submitters, no conflicts | Li-Fraumeni syndrome 1 |
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Detail |
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2022-12-19 | criteria provided, single submitter | TP53-related disorder |
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Detail |
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2023-10-29 | criteria provided, single submitter | Adrenocortical carcinoma, hereditary |
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Detail |
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2020-10-26 | criteria provided, single submitter | nephrogenic diabetes insipidus |
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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.375G>A (p.Thr125=) AND Li-Fraumeni syndrome | ClinVar | Detail |
NM_000546.6(TP53):c.375G>A (p.Thr125=) AND Hereditary cancer-predisposing syndrome | ClinVar | Detail |
NM_000546.6(TP53):c.375G>A (p.Thr125=) AND not provided | ClinVar | Detail |
NM_000546.6(TP53):c.375G>A (p.Thr125=) AND Rhabdomyosarcoma | ClinVar | Detail |
NM_000546.6(TP53):c.375G>A (p.Thr125=) AND Breast and/or ovarian cancer | ClinVar | Detail |
NM_000546.6(TP53):c.375G>A (p.Thr125=) AND Malignant tumor of prostate | ClinVar | Detail |
NM_000546.6(TP53):c.375G>A (p.Thr125=) AND Glioma susceptibility 1 | ClinVar | Detail |
NM_000546.6(TP53):c.375G>A (p.Thr125=) AND Li-Fraumeni syndrome 1 | ClinVar | Detail |
NM_000546.6(TP53):c.375G>A (p.Thr125=) AND TP53-related disorder | ClinVar | Detail |
NM_000546.6(TP53):c.375G>A (p.Thr125=) AND Adrenocortical carcinoma, hereditary | ClinVar | Detail |
NM_000546.6(TP53):c.375G>A (p.Thr125=) AND Nephrogenic diabetes insipidus | ClinVar | Detail |
NA | DisGeNET | Detail |
Overlapped Transcript Coordinates
Gene | Transcript ID | Exon Number | Chromosome | Start | Stop | Type | Amino Mutation | Transcript Position | Links |
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Overlapped Transcript
Gene | Transcript ID | Chromosome | Start | Stop | Links |
---|
- Gene
- -
- dbSNP
- rs55863639 dbSNP
- Genome
- hg38
- Position
- chr17:7,675,994-7,675,994
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
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