chr1:209961970:C>G Detail (hg19) (IRF6)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr1:209,961,970-209,961,970 |
| hg38 | chr1:209,788,625-209,788,625 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_006147.3:c.1199G>C | NP_006138.1:p.Arg400Pro |
| NM_001206696.1:c.914G>C | NP_001193625.1:p.Arg305Pro | |
| Ensemble | ENST00000367021.8:c.1199G>C | ENST00000367021.8:p.Arg400Pro |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:0.003 |
| ToMMo:[No Data.] | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:0.165 |
Prediction
ClinVar
| Clinical Significance | |
| Review star | [No Data.] |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.575 | Van der Woude syndrome | NA | CLINVAR | Detail |
Annotation
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
- chr1:209,961,970-209,961,970
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- G
- Filtering Status (HGVD)
- LowQual
- Filtering Status (HGVD)
- VQSRTrancheSNP99.00to99.90
- # of samples (HGVD)
- 1149
- Mean of sample read depth (HGVD)
- 79.12
- Standard deviation of sample read depth (HGVD)
- 37.19
- Number of reference allele (HGVD)
- 2291
- Number of alternative allele (HGVD)
- 7
- Allele Frequency (HGVD)
- 0.0030461270670147957
- Gene Symbol (HGVD)
- IRF6
- East Asian Chromosome Counts (ExAC)
- 3528
- East Asian Allele Counts (ExAC)
- 582
- East Asian Heterozygous Counts (ExAC)
- 582
- East Asian Homozygous Counts (ExAC)
- 0
- East Asian Allele Frequency (ExAC)
- 0.1649659863945578
- Chromosome Counts in All Race (ExAC)
- 65540
- Allele Counts in All Race (ExAC)
- 4663
- Heterozygous Counts in All Race (ExAC)
- 4663
- Homozygous Counts in All Race (ExAC)
- 0
- Allele Frequency in All Race (ExAC)
- 0.07114739090631675
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