chr1:3682346:C>T Detail (hg38) (TP73)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr1:3,598,910-3,598,910 View the variant detail on this assembly version. |
hg38 | chr1:3,682,346-3,682,346 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_001204184.1:c.-20C>T | |
NM_001204185.1:c.-20C>T | ||
NM_005427.3:c.-20C>T |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Frequency
JP | HGVD:0.234 |
ToMMo:0.250 | |
NCBN:[No Data.] | |
NCBN(Hondo):[No Data.] | |
NCBN(Ryukyu):[No Data.] | |
East asia | ExAC:0.343 |
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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2023-04-11 | criteria provided, single submitter | Ciliary dyskinesia, primary, 47, and lissencephaly |
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Detail |
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.002 | Non-small cell lung carcinoma | This study investigated whether the functional polymorphisms in P53 pathway gene... | BeFree | 21841506 | Detail |
0.219 | Non-small cell lung carcinoma | This study investigated whether the functional polymorphisms in P53 pathway gene... | BeFree | 21841506 | Detail |
<0.001 | esophageal carcinoma | p21 rs3176352 G>C and p73 rs1801173 C>T polymorphisms are associated with ... | BeFree | 24820515 | Detail |
0.001 | Malignant neoplasm of esophagus | p21 rs3176352 G>C and p73 rs1801173 C>T polymorphisms are associated with ... | BeFree | 24820515 | Detail |
<0.001 | Esophageal Neoplasms | p21 rs3176352 G>C and p73 rs1801173 C>T polymorphisms are associated with ... | BeFree | 24820515 | Detail |
<0.001 | Squamous cell carcinoma of esophagus | p21 rs3176352 G>C and p73 rs1801173 C>T SNPs are associated with increased... | BeFree | 24820515 | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_005427.4(TP73):c.-20C>T AND Ciliary dyskinesia, primary, 47, and lissencephaly | ClinVar | Detail |
This study investigated whether the functional polymorphisms in P53 pathway genes, P53 Arg72Pro (rs1... | DisGeNET | Detail |
This study investigated whether the functional polymorphisms in P53 pathway genes, P53 Arg72Pro (rs1... | DisGeNET | Detail |
p21 rs3176352 G>C and p73 rs1801173 C>T polymorphisms are associated with an increased risk of... | DisGeNET | Detail |
p21 rs3176352 G>C and p73 rs1801173 C>T polymorphisms are associated with an increased risk of... | DisGeNET | Detail |
p21 rs3176352 G>C and p73 rs1801173 C>T polymorphisms are associated with an increased risk of... | DisGeNET | Detail |
p21 rs3176352 G>C and p73 rs1801173 C>T SNPs are associated with increased risk of ESCC. | 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
- -
- Genome
- hg38
- Position
- chr1:3,682,346-3,682,346
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
- Filtering Status (HGVD)
- PASS
- # of samples (HGVD)
- 833
- Mean of sample read depth (HGVD)
- 68.03
- Standard deviation of sample read depth (HGVD)
- 33.48
- Number of reference allele (HGVD)
- 1276
- Number of alternative allele (HGVD)
- 390
- Allele Frequency (HGVD)
- 0.234093637454982
- Gene Symbol (HGVD)
- TP73
- ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- PASS
- Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- rs1801173
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.2503
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 4194
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16754
- East Asian Chromosome Counts (ExAC)
- 2034
- East Asian Allele Counts (ExAC)
- 697
- East Asian Heterozygous Counts (ExAC)
- 543
- East Asian Homozygous Counts (ExAC)
- 77
- East Asian Allele Frequency (ExAC)
- 0.34267453294001965
- Chromosome Counts in All Race (ExAC)
- 24678
- Allele Counts in All Race (ExAC)
- 6881
- Heterozygous Counts in All Race (ExAC)
- 5591
- Homozygous Counts in All Race (ExAC)
- 645
- Allele Frequency in All Race (ExAC)
- 0.2788313477591377
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