chr17:7674191:C>T Detail (hg38) (TP53)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr17:7,577,509-7,577,509 View the variant detail on this assembly version. |
hg38 | chr17:7,674,191-7,674,191 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_000546.5:c.772G>A | NP_000537.3:p.Glu258Lys |
NM_001126112.2:c.772G>A | NP_001119584.1:p.Glu258Lys | |
NM_001276760.1:c.772G>A | NP_001263689.1:p.Glu258Lys |
Summary
MGeND
Clinical significance |
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Variant entry | 2 |
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
MGeND
Clinical significance | Last evaluated | Condition | Origin | Submission ID | Submitter | Institute | Citation | Comment | Image |
---|---|---|---|---|---|---|---|---|---|
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2018/01/11 | colon cancer |
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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, single submitter | Li-Fraumeni syndrome 1 |
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Detail |
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2021-11-30 | criteria provided, multiple submitters, no conflicts | not provided |
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Detail |
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no assertion criteria provided | not specified |
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Detail | |
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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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2018-12-01 | no assertion criteria provided | Neoplasm of ovary |
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Detail |
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2023-10-13 | criteria provided, single submitter | Li-Fraumeni syndrome |
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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 | |
0.122 | Neoplastic Syndromes, Hereditary | NA | CLINVAR | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_000546.6(TP53):c.772G>A (p.Glu258Lys) AND Li-Fraumeni syndrome 1 | ClinVar | Detail |
NM_000546.6(TP53):c.772G>A (p.Glu258Lys) AND not provided | ClinVar | Detail |
NM_000546.6(TP53):c.772G>A (p.Glu258Lys) AND not specified | ClinVar | Detail |
NM_000546.6(TP53):c.772G>A (p.Glu258Lys) AND Hereditary cancer-predisposing syndrome | ClinVar | Detail |
NM_000546.6(TP53):c.772G>A (p.Glu258Lys) AND Neoplasm of ovary | ClinVar | Detail |
NM_000546.6(TP53):c.772G>A (p.Glu258Lys) AND Li-Fraumeni syndrome | 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
- rs121912652 dbSNP
- Genome
- hg38
- Position
- chr17:7,674,191-7,674,191
- 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)
- 121234
- 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)
- 8.248511143738554E-6
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