chr17:7675145:C>T Detail (hg38) (TP53)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr17:7,578,463-7,578,463 View the variant detail on this assembly version. |
hg38 | chr17:7,675,145-7,675,145 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_001126117.1:c.-11G>A | |
NM_001276699.1:c.-11G>A | ||
NM_001126115.1:c.-11G>A |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Frequency
JP | HGVD:<0.001 |
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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2024-04-16 | criteria provided, multiple submitters, no conflicts | Hereditary cancer-predisposing syndrome |
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Detail |
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2024-01-11 | criteria provided, multiple submitters, no conflicts | Li-Fraumeni syndrome |
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Detail |
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2024-02-06 | criteria provided, multiple submitters, no conflicts | not specified |
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Detail |
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2023-06-14 | criteria provided, single submitter | not provided |
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Detail |
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2019-05-28 | criteria provided, conflicting interpretations | Squamous cell carcinoma of the head and neck |
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Detail |
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2019-05-01 | criteria provided, single submitter | hereditary breast ovarian cancer syndrome |
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Detail |
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2021-02-22 | reviewed by expert panel | Li-Fraumeni syndrome 1 |
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Detail |
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2020-06-16 | criteria provided, single submitter | Familial cancer of breast |
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Detail |
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2023-10-18 | criteria provided, single submitter | Adrenocortical carcinoma, hereditary |
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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.467G>A (p.Arg156His) AND Hereditary cancer-predisposing syndrome | ClinVar | Detail |
NM_000546.6(TP53):c.467G>A (p.Arg156His) AND Li-Fraumeni syndrome | ClinVar | Detail |
NM_000546.6(TP53):c.467G>A (p.Arg156His) AND not specified | ClinVar | Detail |
NM_000546.6(TP53):c.467G>A (p.Arg156His) AND not provided | ClinVar | Detail |
NM_000546.6(TP53):c.467G>A (p.Arg156His) AND Squamous cell carcinoma of the head and neck | ClinVar | Detail |
NM_000546.6(TP53):c.467G>A (p.Arg156His) AND Hereditary breast ovarian cancer syndrome | ClinVar | Detail |
NM_000546.6(TP53):c.467G>A (p.Arg156His) AND Li-Fraumeni syndrome 1 | ClinVar | Detail |
NM_000546.6(TP53):c.467G>A (p.Arg156His) AND Familial cancer of breast | ClinVar | Detail |
NM_000546.6(TP53):c.467G>A (p.Arg156His) AND Adrenocortical carcinoma, hereditary | 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
- rs371524413 dbSNP
- Genome
- hg38
- Position
- chr17:7,675,145-7,675,145
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
- Filtering Status (HGVD)
- PASS
- Filtering Status (HGVD)
- LowQual
- # of samples (HGVD)
- 1210
- Mean of sample read depth (HGVD)
- 83.71
- Standard deviation of sample read depth (HGVD)
- 38.72
- Number of reference allele (HGVD)
- 2419
- Number of alternative allele (HGVD)
- 1
- Allele Frequency (HGVD)
- 4.1322314049586776E-4
- Gene Symbol (HGVD)
- TP53
- 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)
- 121188
- Allele Counts in All Race (ExAC)
- 3
- Heterozygous Counts in All Race (ExAC)
- 3
- Homozygous Counts in All Race (ExAC)
- 0
- Allele Frequency in All Race (ExAC)
- 2.4754926230319832E-5
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