chr1:209788625:C>T Detail (hg38) (IRF6)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr1:209,961,970-209,961,970 View the variant detail on this assembly version. |
hg38 | chr1:209,788,625-209,788,625 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_006147.3:c.1199G>A | NP_006138.1:p.Arg400Gln |
NM_001206696.1:c.914G>A | NP_001193625.1:p.Arg305Gln | |
Ensemble | ENST00000367021.8:c.1199G>A | ENST00000367021.8:p.Arg400Gln |
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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2010-09-01 | 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 |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_006147.4(IRF6):c.1199G>A (p.Arg400Gln) AND Van der Woude syndrome 1 | 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
- rs200166664 dbSNP
- Genome
- hg38
- Position
- chr1:209,788,625-209,788,625
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
Genome browser