chr1:209796476:C>T Detail (hg38) (IRF6)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr1:209,969,821-209,969,821 View the variant detail on this assembly version. |
hg38 | chr1:209,796,476-209,796,476 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_006147.3:c.251G>A | NP_006138.1:p.Arg84His |
NM_001206696.1:c.-35G>A | ||
Ensemble | ENST00000367021.8:c.251G>A | ENST00000367021.8:p.Arg84His |
Summary
MGeND
Clinical significance |
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Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Disease area statistics
MGeND
Clinical significance | Last evaluated | Condition | Origin | Submission ID | Submitter | Institute | Citation | Comment | Image |
---|---|---|---|---|---|---|---|---|---|
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other |
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MGS000073
(TMGS000167) |
Kenjiro Kosaki |
Keio University IRUD |
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
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2002-10-01 | no assertion criteria provided | popliteal pterygium syndrome |
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Detail |
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2017-04-10 | criteria provided, single submitter | not provided |
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Detail |
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2023-12-02 | criteria provided, single submitter | Orofacial cleft 6, susceptibility to,popliteal pterygium syndrome,Van der Woude syndrome |
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Detail |
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2023-12-02 | criteria provided, single submitter | Orofacial cleft 6, susceptibility to,popliteal pterygium syndrome,Van der Woude syndrome |
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Detail |
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2023-12-02 | criteria provided, single submitter | Orofacial cleft 6, susceptibility to,popliteal pterygium syndrome,Van der Woude syndrome |
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Detail |
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2018-07-03 | no assertion criteria provided | Van der Woude syndrome 1 |
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Detail |
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no assertion provided | Autosomal dominant popliteal pterygium syndrome |
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Detail |
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.563 | popliteal pterygium syndrome | NA | CLINVAR | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_006147.4(IRF6):c.251G>A (p.Arg84His) AND Popliteal pterygium syndrome | ClinVar | Detail |
NM_006147.4(IRF6):c.251G>A (p.Arg84His) AND not provided | ClinVar | Detail |
NM_006147.4(IRF6):c.251G>A (p.Arg84His) AND multiple conditions | ClinVar | Detail |
NM_006147.4(IRF6):c.251G>A (p.Arg84His) AND multiple conditions | ClinVar | Detail |
NM_006147.4(IRF6):c.251G>A (p.Arg84His) AND multiple conditions | ClinVar | Detail |
NM_006147.4(IRF6):c.251G>A (p.Arg84His) AND Van der Woude syndrome 1 | ClinVar | Detail |
NM_006147.4(IRF6):c.251G>A (p.Arg84His) AND Autosomal dominant popliteal pterygium syndrome | 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
- rs121434227 dbSNP
- Genome
- hg38
- Position
- chr1:209,796,476-209,796,476
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
Genome browser