chr17:7675139:C>T Detail (hg38) (TP53)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr17:7,578,457-7,578,457 View the variant detail on this assembly version. |
hg38 | chr17:7,675,139-7,675,139 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_000546.5:c.473G>A | NP_000537.3:p.Arg158His |
NM_001126112.2:c.473G>A | NP_001119584.1:p.Arg158His | |
NM_001276760.1:c.473G>A | NP_001263689.1:p.Arg158His |
Summary
MGeND
Clinical significance | |
Variant entry | |
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 |
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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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2023-05-11 | criteria provided, multiple submitters, no conflicts | Hereditary cancer-predisposing syndrome |
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Detail |
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2024-01-19 | criteria provided, multiple submitters, no conflicts | Li-Fraumeni syndrome |
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Detail |
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2023-04-12 | criteria provided, multiple submitters, no conflicts | not provided |
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Detail |
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2024-02-14 | criteria provided, multiple submitters, no conflicts | Li-Fraumeni syndrome 1 |
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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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2023-05-24 | criteria provided, single submitter | Adrenocortical carcinoma, hereditary |
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Detail |
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2022-12-23 | criteria provided, single submitter | Breast and/or ovarian cancer |
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Detail |
CIViC
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.122 | Neoplastic Syndromes, Hereditary | NA | CLINVAR | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
Subset of 58 cancer cell lines with unaltered TP53 is sensitive to MDM2 Inhibitor AMGMDS3. None of 1... | CIViC Evidence | Detail |
NM_000546.6(TP53):c.473G>A (p.Arg158His) AND Hereditary cancer-predisposing syndrome | ClinVar | Detail |
NM_000546.6(TP53):c.473G>A (p.Arg158His) AND Li-Fraumeni syndrome | ClinVar | Detail |
NM_000546.6(TP53):c.473G>A (p.Arg158His) AND not provided | ClinVar | Detail |
NM_000546.6(TP53):c.473G>A (p.Arg158His) AND Li-Fraumeni syndrome 1 | ClinVar | Detail |
NM_000546.6(TP53):c.473G>A (p.Arg158His) AND Rhabdomyosarcoma | ClinVar | Detail |
NM_000546.6(TP53):c.473G>A (p.Arg158His) AND Adrenocortical carcinoma, hereditary | ClinVar | Detail |
NM_000546.6(TP53):c.473G>A (p.Arg158His) AND Breast and/or ovarian cancer | 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
- rs587782144 dbSNP
- Genome
- hg38
- Position
- chr17:7,675,139-7,675,139
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
- East Asian Chromosome Counts (ExAC)
- 8654
- 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)
- 121224
- Allele Counts in All Race (ExAC)
- 1
- Heterozygous Counts in All Race (ExAC)
- 1
- Homozygous Counts in All Race (ExAC)
- 0
- Allele Frequency in All Race (ExAC)
- 8.249191579225235E-6
- Variant (CIViC) (CIViC Variant)
- R158H
- Transcript 1 (CIViC Variant)
- ENST00000269305.4
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/1695
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