chr1:209796453:C>A Detail (hg38) (IRF6)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr1:209,969,798-209,969,798 View the variant detail on this assembly version. |
| hg38 | chr1:209,796,453-209,796,453 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_006147.3:c.274G>T | NP_006138.1:p.Glu92Ter |
| NM_001206696.1:c.-12G>T | ||
| Ensemble | ENST00000367021.8:c.274G>T | ENST00000367021.8:p.Glu92Ter |
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 |
|---|---|---|---|---|---|
Pathogenic
|
2019-01-21 | no assertion criteria provided | Van der Woude syndrome 1 |
germline
inherited
|
Detail |
|
Pathogenic
|
2024-01-21 | criteria provided, single submitter | popliteal pterygium syndrome,Orofacial cleft 6, susceptibility to,Van der Woude syndrome |
germline
|
Detail |
|
Pathogenic
|
2024-01-21 | criteria provided, single submitter | popliteal pterygium syndrome,Orofacial cleft 6, susceptibility to,Van der Woude syndrome |
germline
|
Detail |
|
Pathogenic
|
2024-01-21 | criteria provided, single submitter | popliteal pterygium syndrome,Orofacial cleft 6, susceptibility to,Van der Woude syndrome |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.575 | Van der Woude syndrome | NA | CLINVAR | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_006147.4(IRF6):c.274G>T (p.Glu92Ter) AND Van der Woude syndrome 1 | ClinVar | Detail |
| NM_006147.4(IRF6):c.274G>T (p.Glu92Ter) AND multiple conditions | ClinVar | Detail |
| NM_006147.4(IRF6):c.274G>T (p.Glu92Ter) AND multiple conditions | ClinVar | Detail |
| NM_006147.4(IRF6):c.274G>T (p.Glu92Ter) AND multiple conditions | ClinVar | Detail |
| NA | 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
- rs121434224 dbSNP
- Genome
- hg38
- Position
- chr1:209,796,453-209,796,453
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- A
Genome browser