chr1:209961983:G>A Detail (hg19) (IRF6)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr1:209,961,983-209,961,983 |
| hg38 | chr1:209,788,638-209,788,638 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_001206696.1:c.901C>T | NP_001193625.1:p.Pro301Ser |
| NM_006147.3:c.1186C>T | NP_006138.1:p.Pro396Ser | |
| Ensemble | ENST00000542854.5:c.901C>T | ENST00000542854.5:p.Pro301Ser |
Summary
MGeND
| Clinical significance |
Pathogenic
|
| Variant entry | 1 |
| GWAS entry | |
| Disease area statistics | Show details |
Disease area statistics
MGeND
| Clinical significance | Last evaluated | Condition | Origin | Submission ID | Submitter | Institute | Citation | Comment | Image |
|---|---|---|---|---|---|---|---|---|---|
|
Pathogenic
|
2017/03/30 | other |
germline
|
MGS000001
(TMGS000137) |
Kenjiro Kosaki | Keio University |
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Pathogenic
|
2003-01-01 | no assertion criteria provided | Van der Woude syndrome 1 |
germline
|
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.1186C>T (p.Pro396Ser) AND Van der Woude syndrome 1 | 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
- rs121434230 dbSNP
- Genome
- hg19
- Position
- chr1:209,961,983-209,961,983
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
Genome browser