chr18:43432625:C>T Detail (hg19) (EPG5)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr18:43,432,625-43,432,625 |
| hg38 | chr18:45,852,660-45,852,660 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_020964.2:c.7558-11G>A | |
| Ensemble | ENST00000282041.11:c.7558-11G>A | |
| ENST00000696489.1:c.7555-11G>A |
Summary
MGeND
| Clinical significance |
not provided
|
| Variant entry | |
| GWAS entry | 1 |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:0.107 |
| ToMMo:0.115 | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:0.179 |
Prediction
ClinVar
| Clinical Significance |
Benign
|
| Review star |  |
| Show details | |
Disease area statistics
MGeND
| Clinical significance | Last evaluated | Condition | Origin | Submission ID | Submitter | Institute | Citation | Comment | Image |
|---|---|---|---|---|---|---|---|---|---|
|
not provided
|
Other specified congenital deformities of hip |
not provided
|
MGS000063
(TMGS000130) |
Yu Mori Yu Mori |
Tohoku University Tohoku University |
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Benign
|
2024-01-24 | criteria provided, multiple submitters, no conflicts | not specified |
germline
|
Detail |
|
Benign
|
2018-04-02 | criteria provided, single submitter | not provided |
germline
|
Detail |
|
Benign
|
2024-02-01 | criteria provided, single submitter | Vici syndrome |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_020964.3(EPG5):c.7558-11G>A AND not specified | ClinVar | Detail |
| NM_020964.3(EPG5):c.7558-11G>A AND not provided | ClinVar | Detail |
| NM_020964.3(EPG5):c.7558-11G>A AND Vici syndrome | ClinVar | Detail |
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs57761448 dbSNP
- Genome
- hg19
- Position
- chr18:43,432,625-43,432,625
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
- Filtering Status (HGVD)
- PASS
- # of samples (HGVD)
- 837
- Mean of sample read depth (HGVD)
- 54.44
- Standard deviation of sample read depth (HGVD)
- 22.28
- Number of reference allele (HGVD)
- 1495
- Number of alternative allele (HGVD)
- 179
- Allele Frequency (HGVD)
- 0.10692951015531661
- Gene Symbol (HGVD)
- EPG5
- 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))
- rs57761448
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.1152
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 1930
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
- East Asian Chromosome Counts (ExAC)
- 8598
- East Asian Allele Counts (ExAC)
- 1542
- East Asian Heterozygous Counts (ExAC)
- 1246
- East Asian Homozygous Counts (ExAC)
- 148
- East Asian Allele Frequency (ExAC)
- 0.1793440334961619
- Chromosome Counts in All Race (ExAC)
- 118914
- Allele Counts in All Race (ExAC)
- 12562
- Heterozygous Counts in All Race (ExAC)
- 11052
- Homozygous Counts in All Race (ExAC)
- 755
- Allele Frequency in All Race (ExAC)
- 0.105639369628471
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