chr1:209801280:C>T Detail (hg38) (IRF6)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr1:209,974,625-209,974,625 View the variant detail on this assembly version. |
hg38 | chr1:209,801,280-209,801,280 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_006147.3:c.134G>A | NP_006138.1:p.Arg45Gln |
NM_001206696.1:c.-112+4667G>A | ||
Ensemble | ENST00000367021.8:c.134G>A | ENST00000367021.8:p.Arg45Gln |
Summary
MGeND
Clinical significance |
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Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Frequency
JP | HGVD:[No Data.] |
ToMMo:<0.001 | |
NCBN:[No Data.] | |
NCBN(Hondo):[No Data.] | |
NCBN(Ryukyu):[No Data.] | |
East asia | ExAC:<0.001 |
Prediction
ClinVar
Clinical Significance | Conflicting classifications of pathogenicity |
Review star | ![]() |
Show details |
Disease area statistics
MGeND
Clinical significance | Last evaluated | Condition | Origin | Submission ID | Submitter | Institute | Citation | Comment | Image |
---|---|---|---|---|---|---|---|---|---|
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2017/03/30 | other |
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MGS000001
(TMGS000137) |
Kenjiro Kosaki | Keio University |
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
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2003-01-01 | no assertion criteria provided | Van der Woude syndrome 1 |
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Detail |
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2022-05-20 | criteria provided, single submitter | not provided |
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Detail |
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no assertion criteria provided | Van der Woude syndrome |
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Detail | |
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2024-01-15 | criteria provided, single submitter | Van der Woude syndrome,popliteal pterygium syndrome,Orofacial cleft 6, susceptibility to |
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Detail |
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2024-01-15 | criteria provided, single submitter | Van der Woude syndrome,popliteal pterygium syndrome,Orofacial cleft 6, susceptibility to |
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Detail |
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2024-01-15 | criteria provided, single submitter | Van der Woude syndrome,popliteal pterygium syndrome,Orofacial cleft 6, susceptibility to |
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Detail |
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.575 | Van der Woude syndrome | NA | CLINVAR | Detail | |
0.575 | Van der Woude syndrome | Novel IRF6 mutations in Japanese patients with Van der Woude syndrome: two misse... | UNIPROT | 14618417 | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_006147.4(IRF6):c.134G>A (p.Arg45Gln) AND Van der Woude syndrome 1 | ClinVar | Detail |
NM_006147.4(IRF6):c.134G>A (p.Arg45Gln) AND not provided | ClinVar | Detail |
NM_006147.4(IRF6):c.134G>A (p.Arg45Gln) AND Van der Woude syndrome | ClinVar | Detail |
NM_006147.4(IRF6):c.134G>A (p.Arg45Gln) AND multiple conditions | ClinVar | Detail |
NM_006147.4(IRF6):c.134G>A (p.Arg45Gln) AND multiple conditions | ClinVar | Detail |
NM_006147.4(IRF6):c.134G>A (p.Arg45Gln) AND multiple conditions | ClinVar | Detail |
NA | DisGeNET | Detail |
Novel IRF6 mutations in Japanese patients with Van der Woude syndrome: two missense mutations (R45Q ... | DisGeNET | 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
- rs121434229 dbSNP
- Genome
- hg38
- Position
- chr1:209,801,280-209,801,280
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
- 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))
- rs121434229
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.0001
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 2
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
- East Asian Chromosome Counts (ExAC)
- 8652
- East Asian Allele Counts (ExAC)
- 0
- East Asian Heterozygous Counts (ExAC)
- 0
- East Asian Homozygous Counts (ExAC)
- 0
- East Asian Allele Frequency (ExAC)
- 0.0
- Chromosome Counts in All Race (ExAC)
- 121388
- Allele Counts in All Race (ExAC)
- 1
- Heterozygous Counts in All Race (ExAC)
- 1
- Homozygous Counts in All Race (ExAC)
- 0
- Allele Frequency in All Race (ExAC)
- 8.238046594391538E-6
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