chr6:7580113:G>A Detail (hg38) (DSP)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr6:7,580,346-7,580,346 View the variant detail on this assembly version. |
| hg38 | chr6:7,580,113-7,580,113 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_004415.3:c.3923G>A | NP_004406.2:p.Arg1308Gln |
| NM_001008844.2:c.3582+341G>A | ||
| NM_001319034.1:c.3582+341G>A |
Summary
MGeND
| Clinical significance |
Benign
|
| Variant entry | 1 |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:0.002 |
| ToMMo:0.002 | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:0.016 |
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
|
Centenarian |
germline
|
MGS000068
(TMGS000140) |
Kenjiro Kosaki | Keio University |
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Benign
Likely benign
|
2017-06-28 | criteria provided, multiple submitters, no conflicts | not specified |
germline
|
Detail |
|
Likely benign
|
2016-06-14 | criteria provided, single submitter | Woolly hair-skin fragility syndrome |
germline
|
Detail |
|
Likely benign
|
2016-06-14 | criteria provided, single submitter | arrhythmogenic right ventricular cardiomyopathy |
germline
|
Detail |
|
Likely benign
|
2016-06-14 | criteria provided, single submitter | Lethal acantholytic epidermolysis bullosa |
germline
|
Detail |
|
Likely benign
|
2016-06-14 | criteria provided, single submitter | Epidermolysis bullosa simplex due to plakophilin deficiency |
germline
|
Detail |
|
Benign
|
2022-07-01 | criteria provided, multiple submitters, no conflicts | not provided |
germline
|
Detail |
|
Benign
|
2016-05-23 | criteria provided, single submitter |
germline
|
Detail | |
|
Benign
|
2018-03-08 | criteria provided, multiple submitters, no conflicts | cardiomyopathy |
germline
|
Detail |
|
Benign
|
2017-07-06 | criteria provided, single submitter | hypertrophic cardiomyopathy,cardiomyopathy |
germline
|
Detail |
|
Benign
|
2017-07-06 | criteria provided, single submitter | hypertrophic cardiomyopathy,cardiomyopathy |
germline
|
Detail |
|
Benign
|
2024-01-24 | criteria provided, single submitter | arrhythmogenic right ventricular dysplasia 8,Arrhythmogenic cardiomyopathy with wooly hair and keratoderma |
germline
|
Detail |
|
Benign
|
2024-01-24 | criteria provided, single submitter | arrhythmogenic right ventricular dysplasia 8,Arrhythmogenic cardiomyopathy with wooly hair and keratoderma |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_004415.4(DSP):c.3923G>A (p.Arg1308Gln) AND not specified | ClinVar | Detail |
| NM_004415.4(DSP):c.3923G>A (p.Arg1308Gln) AND Woolly hair-skin fragility syndrome | ClinVar | Detail |
| NM_004415.4(DSP):c.3923G>A (p.Arg1308Gln) AND Arrhythmogenic right ventricular cardiomyopathy | ClinVar | Detail |
| NM_004415.4(DSP):c.3923G>A (p.Arg1308Gln) AND Lethal acantholytic epidermolysis bullosa | ClinVar | Detail |
| NM_004415.4(DSP):c.3923G>A (p.Arg1308Gln) AND Epidermolysis bullosa simplex due to plakophilin defic... | ClinVar | Detail |
| NM_004415.4(DSP):c.3923G>A (p.Arg1308Gln) AND not provided | ClinVar | Detail |
| NM_004415.4(DSP):c.3923G>A (p.Arg1308Gln) AND Cardiovascular phenotype | ClinVar | Detail |
| NM_004415.4(DSP):c.3923G>A (p.Arg1308Gln) AND Cardiomyopathy | ClinVar | Detail |
| NM_004415.4(DSP):c.3923G>A (p.Arg1308Gln) AND multiple conditions | ClinVar | Detail |
| NM_004415.4(DSP):c.3923G>A (p.Arg1308Gln) AND multiple conditions | ClinVar | Detail |
| NM_004415.4(DSP):c.3923G>A (p.Arg1308Gln) AND multiple conditions | ClinVar | Detail |
| NM_004415.4(DSP):c.3923G>A (p.Arg1308Gln) AND multiple conditions | 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
- rs184154918 dbSNP
- Genome
- hg38
- Position
- chr6:7,580,113-7,580,113
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
- Filtering Status (HGVD)
- PASS
- # of samples (HGVD)
- 1208
- Mean of sample read depth (HGVD)
- 59.51
- Standard deviation of sample read depth (HGVD)
- 34.62
- Number of reference allele (HGVD)
- 2410
- Number of alternative allele (HGVD)
- 6
- Allele Frequency (HGVD)
- 0.0024834437086092716
- Gene Symbol (HGVD)
- DSP
- 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))
- rs184154918
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.0018
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 31
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
- East Asian Chromosome Counts (ExAC)
- 8618
- East Asian Allele Counts (ExAC)
- 142
- East Asian Heterozygous Counts (ExAC)
- 140
- East Asian Homozygous Counts (ExAC)
- 1
- East Asian Allele Frequency (ExAC)
- 0.0164771408679508
- Chromosome Counts in All Race (ExAC)
- 120504
- Allele Counts in All Race (ExAC)
- 146
- Heterozygous Counts in All Race (ExAC)
- 144
- Homozygous Counts in All Race (ExAC)
- 1
- Allele Frequency in All Race (ExAC)
- 0.001211578038903273
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