chr14:23312554:C>G Detail (hg19) (MMP14)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr14:23,312,554-23,312,554 |
hg38 | chr14:22,843,345-22,843,345 View the variant detail on this assembly version. |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_004995.3:c.777C>G | NP_004986.1:p.Pro259= |
Ensemble | ENST00000311852.11:c.777C>G | ENST00000311852.11:p.Pro259= |
ENST00000548162.2:c.777C>G | ENST00000548162.2:p.Pro259= |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Frequency
JP | HGVD:0.107 |
ToMMo:0.113 | |
NCBN:[No Data.] | |
NCBN(Hondo):[No Data.] | |
NCBN(Ryukyu):[No Data.] | |
East asia | ExAC:0.128 |
Prediction
ClinVar
Clinical Significance |
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Review star | ![]() |
Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
<0.001 | Adenocarcinoma Of Esophagus | Subsequent logistic regression analysis indicated that 10 SNPs (rs2070744 of NOS... | BeFree | 21472143 | Detail |
<0.001 | Adenocarcinoma Of Esophagus | Subsequent logistic regression analysis indicated that 10 SNPs (rs2070744 of NOS... | BeFree | 21472143 | Detail |
<0.001 | Adenocarcinoma Of Esophagus | Subsequent logistic regression analysis indicated that 10 SNPs (rs2070744 of NOS... | BeFree | 21472143 | Detail |
<0.001 | Adenocarcinoma Of Esophagus | Subsequent logistic regression analysis indicated that 10 SNPs (rs2070744 of NOS... | BeFree | 21472143 | Detail |
<0.001 | Adenocarcinoma Of Esophagus | Subsequent logistic regression analysis indicated that 10 SNPs (rs2070744 of NOS... | BeFree | 21472143 | Detail |
<0.001 | Adenocarcinoma Of Esophagus | Subsequent logistic regression analysis indicated that 10 SNPs (rs2070744 of NOS... | BeFree | 21472143 | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_004995.4(MMP14):c.777C>G (p.Pro259=) AND not provided | ClinVar | Detail |
NM_004995.4(MMP14):c.777C>G (p.Pro259=) AND MMP14-related disorder | ClinVar | Detail |
Subsequent logistic regression analysis indicated that 10 SNPs (rs2070744 of NOS3, rs720321 of BCL2,... | DisGeNET | Detail |
Subsequent logistic regression analysis indicated that 10 SNPs (rs2070744 of NOS3, rs720321 of BCL2,... | DisGeNET | Detail |
Subsequent logistic regression analysis indicated that 10 SNPs (rs2070744 of NOS3, rs720321 of BCL2,... | DisGeNET | Detail |
Subsequent logistic regression analysis indicated that 10 SNPs (rs2070744 of NOS3, rs720321 of BCL2,... | DisGeNET | Detail |
Subsequent logistic regression analysis indicated that 10 SNPs (rs2070744 of NOS3, rs720321 of BCL2,... | DisGeNET | Detail |
Subsequent logistic regression analysis indicated that 10 SNPs (rs2070744 of NOS3, rs720321 of BCL2,... | 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
- rs2236302 dbSNP
- Genome
- hg19
- Position
- chr14:23,312,554-23,312,554
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- G
- Filtering Status (HGVD)
- PASS
- # of samples (HGVD)
- 1210
- Mean of sample read depth (HGVD)
- 110.06
- Standard deviation of sample read depth (HGVD)
- 55.27
- Number of reference allele (HGVD)
- 2161
- Number of alternative allele (HGVD)
- 259
- Allele Frequency (HGVD)
- 0.10702479338842975
- Gene Symbol (HGVD)
- MMP14
- 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))
- rs2236302
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.113
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 1894
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
- East Asian Chromosome Counts (ExAC)
- 8620
- East Asian Allele Counts (ExAC)
- 1100
- East Asian Heterozygous Counts (ExAC)
- 978
- East Asian Homozygous Counts (ExAC)
- 61
- East Asian Allele Frequency (ExAC)
- 0.12761020881670534
- Chromosome Counts in All Race (ExAC)
- 121228
- Allele Counts in All Race (ExAC)
- 15074
- Heterozygous Counts in All Race (ExAC)
- 12742
- Homozygous Counts in All Race (ExAC)
- 1166
- Allele Frequency in All Race (ExAC)
- 0.124344210908371
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