chr1:152311732:T>C Detail (hg38) (FLG, CCDST)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr1:152,284,208-152,284,208 View the variant detail on this assembly version. |
| hg38 | chr1:152,311,732-152,311,732 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_002016.1:c.3154A>G | NP_002007.1:p.Arg1052Gly |
| Ensemble | ENST00000368799.2:c.3154A>G | ENST00000368799.2:p.Arg1052Gly |
Summary
MGeND
| Clinical significance |
Benign
|
| Variant entry | 1 |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:0.034 |
| ToMMo:0.029 | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:0.021 |
Prediction
ClinVar
| Clinical Significance |
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 |
|---|---|---|---|---|---|
|
Likely benign
|
2018-06-15 | criteria provided, single submitter | not provided |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_002016.2(FLG):c.3154A>G (p.Arg1052Gly) 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
- -
- dbSNP
- rs138106153 dbSNP
- Genome
- hg38
- Position
- chr1:152,311,732-152,311,732
- Variant Type
- snv
- Reference Allele
- T
- Alternative Allele
- C
- Filtering Status (HGVD)
- PASS
- Filtering Status (HGVD)
- VQSRTrancheSNP99.00to99.90
- # of samples (HGVD)
- 1131
- Mean of sample read depth (HGVD)
- 58.16
- Standard deviation of sample read depth (HGVD)
- 82.34
- Number of reference allele (HGVD)
- 2184
- Number of alternative allele (HGVD)
- 78
- Allele Frequency (HGVD)
- 0.034482758620689655
- Gene Symbol (HGVD)
- FLG
- ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- VQSRTrancheSNP99.50to99.60
- Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- rs138106153
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.0287
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 481
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
- East Asian Chromosome Counts (ExAC)
- 8648
- East Asian Allele Counts (ExAC)
- 183
- East Asian Heterozygous Counts (ExAC)
- 177
- East Asian Homozygous Counts (ExAC)
- 3
- East Asian Allele Frequency (ExAC)
- 0.021160962072155412
- Chromosome Counts in All Race (ExAC)
- 121404
- Allele Counts in All Race (ExAC)
- 235
- Heterozygous Counts in All Race (ExAC)
- 229
- Homozygous Counts in All Race (ExAC)
- 3
- Allele Frequency in All Race (ExAC)
- 0.001935685809363777
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