GRHL1 grainyhead like transcription factor 1
Information
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Pathogenic | 2 | 0 |
Benign | 0 | 2 |
Uncertain significance | 0 | 44 |
Ranking
ClinVar | |
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0 |
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0 |
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0 |
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46 |
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0 |
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
Locus Zoom
Variants
Search Word
Target data | : |
MGeND data only
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Variant name | Gene | AA change | CDS | Japanese frequency |
TogoVar | MGeND | Genome | ClinVar | CIViC evidence | DisGeNET entry | COSMIC occurrence |
Prediction | |||||
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Entry | Origin | Type | Annotation | Entry | Origin | Annotation |
Search Word
Target data | : |
MGeND data only
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Name | MGeND | Type | Genome | Size | Chromosome | Start | Stop | Ref | Alt | ClinVar | Origin | Entry | CIViC evidence | DisGeNET entry | |||
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Entry | Origin | Type | Annotation |
Search Word
Target data | : |
MGeND data only
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Category | : |
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Search word | : | |
Filtering | : |
Name | MGeND | Type | Genome | Gene symbol | Chromosome | Genomic start | Genomic stop | Strand | Ref | Alt | ClinVar | Origin | Entry | CIViC evidence | DisGeNET entry | |||
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Entry | Origin | Type | Annotation |
Type | ID |
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SYNONYM | LBP32 |
SYNONYM | MGR |
SYNONYM | NH32 |
SYNONYM | TFCP2L2 |
MIM | 609786 OMIM |
HGNC | HGNC:17923 HGNC |
Ensembl | ENSG00000134317 Ensembl |
AllianceGenome | HGNC:17923 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000324907.14 | hg38 | chr2 | 9,951,693 | 10,002,277 | 50,585 |
ENST00000405379.6 | hg38 | chr2 | 9,961,165 | 10,001,205 | 40,041 |
ENST00000480736.1 | hg38 | chr2 | 9,995,306 | 10,000,866 | 5,561 |
ENST00000324907.14 | hg19 | chr2 | 10,091,822 | 10,142,405 | 50,584 |
ENST00000405379.6 | hg19 | chr2 | 10,101,294 | 10,141,333 | 40,040 |
ENST00000480736.1 | hg19 | chr2 | 10,135,434 | 10,140,994 | 5,561 |
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