chr1:209974754:G>A Detail (hg19) (IRF6)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr1:209,974,754-209,974,754 |
hg38 | chr1:209,801,409-209,801,409 View the variant detail on this assembly version. |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_006147.3:c.5C>T | NP_006138.1:p.Ala2Val |
NM_001206696.1:c.-112+4538C>T | ||
Ensemble | ENST00000367021.8:c.5C>T | ENST00000367021.8:p.Ala2Val |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
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2003-10-01 | no assertion criteria provided | Van der Woude syndrome 1 |
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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 | The gene encoding IRF6 is located in the critical region for the Van der Woude s... | UNIPROT | 12219090 | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_006147.4(IRF6):c.5C>T (p.Ala2Val) AND Van der Woude syndrome 1 | ClinVar | Detail |
NA | DisGeNET | Detail |
The gene encoding IRF6 is located in the critical region for the Van der Woude syndrome (VWS; OMIM 1... | 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
- rs28942093 dbSNP
- Genome
- hg19
- Position
- chr1:209,974,754-209,974,754
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
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