TFAP2C transcription factor AP-2 gamma
Information
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Benign | 0 | 2 |
not provided | 1 | 0 |
Uncertain significance | 0 | 28 |
Ranking
ClinVar | |
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0 |
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0 |
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0 |
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26 |
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4 |
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
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Variants
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Target data | : |
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Variant name | Gene | AA change | CDS | Japanese frequency |
TogoVar | MGeND | Genome | ClinVar | CIViC evidence | DisGeNET entry | COSMIC occurrence |
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Entry | Origin | Type | Annotation | Entry | Origin | Annotation |
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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 |
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MGeND data only
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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 | AP2-GAMMA |
SYNONYM | ERF1 |
SYNONYM | TFAP2G |
SYNONYM | hAP-2g |
MIM | 601602 OMIM |
HGNC | HGNC:11744 HGNC |
Ensembl | ENSG00000087510 Ensembl |
AllianceGenome | HGNC:11744 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
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ENST00000201031.3 | hg38 | chr20 | 56,629,306 | 56,639,283 | 9,978 |
ENST00000201031.3 | hg19 | chr20 | 55,204,362 | 55,214,339 | 9,978 |
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