chr2:127816632:G>A Detail (hg19) (BIN1)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr2:127,816,632-127,816,632 |
| hg38 | chr2:127,059,056-127,059,056 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_001320632.1:c.909C>T | NP_001307561.1:p.Ala303= |
| NM_001320640.1:c.864C>T | NP_001307569.1:p.Ala288= | |
| NM_139348.2:c.864C>T | NP_647598.1:p.Ala288= |
Summary
MGeND
| Clinical significance |
Benign
|
| Variant entry | 0 |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:0.020 |
| ToMMo:0.020 | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:0.122 |
Prediction
ClinVar
| Clinical Significance |
Benign
Likely benign
|
| Review star |  |
| Show details | |
Disease area statistics
MGeND
| Clinical significance | Last evaluated | Condition | Origin | Submission ID | Submitter | Institute | Citation | Comment | Image |
|---|---|---|---|---|---|---|---|---|---|
|
Benign
|
2018/05/23 | Aged, 100 and over |
germline
|
MGS000013
(TMGS000027) |
Hiroshi Mori | Osaka City University |
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Benign
Likely benign
|
2016-01-28 | criteria provided, multiple submitters, no conflicts | not specified |
germline
|
Detail |
|
Benign
|
2024-01-31 | criteria provided, multiple submitters, no conflicts | Myopathy, centronuclear, 2 |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_139343.3(BIN1):c.957C>T (p.Ala319=) AND not specified | ClinVar | Detail |
| NM_139343.3(BIN1):c.957C>T (p.Ala319=) AND Myopathy, centronuclear, 2 | ClinVar | 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
- rs2276579 dbSNP
- Genome
- hg19
- Position
- chr2:127,816,632-127,816,632
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
- Filtering Status (HGVD)
- PASS
- # of samples (HGVD)
- 1128
- Mean of sample read depth (HGVD)
- 28.39
- Standard deviation of sample read depth (HGVD)
- 12.58
- Number of reference allele (HGVD)
- 2212
- Number of alternative allele (HGVD)
- 44
- Allele Frequency (HGVD)
- 0.01950354609929078
- Gene Symbol (HGVD)
- BIN1
- 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))
- rs2276579
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.0197
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 331
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
- East Asian Chromosome Counts (ExAC)
- 1938
- East Asian Allele Counts (ExAC)
- 237
- East Asian Heterozygous Counts (ExAC)
- 227
- East Asian Homozygous Counts (ExAC)
- 5
- East Asian Allele Frequency (ExAC)
- 0.12229102167182662
- Chromosome Counts in All Race (ExAC)
- 36022
- Allele Counts in All Race (ExAC)
- 9196
- Heterozygous Counts in All Race (ExAC)
- 7470
- Homozygous Counts in All Race (ExAC)
- 863
- Allele Frequency in All Race (ExAC)
- 0.2552884348453723
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