chr6:157522274:G>A Detail (hg19) (ARID1B)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr6:157,522,274-157,522,274 |
| hg38 | chr6:157,201,140-157,201,140 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_020732.3:c.4795G>A | NP_065783.3:p.Val1599Ile |
| NM_017519.2:c.4756G>A | NP_059989.2:p.Val1586Ile | |
| Ensemble | ENST00000414678.8:c.4825G>A | ENST00000414678.8:p.Val1609Ile |
Summary
MGeND
| Clinical significance |
not provided
|
| Variant entry | 1 |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:0.002 |
| ToMMo:0.001 | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:0.002 |
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
|
Carcinoma of endocrine pancreas (disorder) |
unknown
|
MGS000021
(TMGS000080) |
Manabu Muto | Kyoto University |
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Benign
|
2023-11-04 | criteria provided, single submitter | not provided |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_001374828.1(ARID1B):c.4915G>A (p.Val1639Ile) AND not provided | 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
- -
- Genome
- hg19
- Position
- chr6:157,522,274-157,522,274
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
- Filtering Status (HGVD)
- PASS
- Filtering Status (HGVD)
- LowQual
- # of samples (HGVD)
- 1210
- Mean of sample read depth (HGVD)
- 242.69
- Standard deviation of sample read depth (HGVD)
- 115.05
- Number of reference allele (HGVD)
- 2414
- Number of alternative allele (HGVD)
- 6
- Allele Frequency (HGVD)
- 0.0024793388429752068
- Gene Symbol (HGVD)
- ARID1B
- 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))
- rs567836947
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.0014
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 23
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
- East Asian Heterozygous Counts (ExAC)
- 14
- East Asian Homozygous Counts (ExAC)
- 0
- East Asian Chromosome Counts (ExAC)
- 8654
- East Asian Allele Counts (ExAC)
- 14
- East Asian Allele Frequency (ExAC)
- 0.0016177490177952392
- Chromosome Counts in All Race (ExAC)
- 121318
- Allele Counts in All Race (ExAC)
- 14
- Heterozygous Counts in All Race (ExAC)
- 14
- Homozygous Counts in All Race (ExAC)
- 0
- Allele Frequency in All Race (ExAC)
- 1.1539919879984834E-4
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