SEPTIN4 septin 4
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Benign | 0 | 2 |
Likely benign | 0 | 8 |
Uncertain significance | 0 | 60 |
Ranking
ClinVar | |
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0 |
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0 |
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0 |
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70 |
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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
[No Data.]
Locus Zoom
Variants
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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 |
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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 |
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Target data | : |
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 | ARTS |
SYNONYM | BRADEION |
SYNONYM | C17orf47 |
SYNONYM | CE5B3 |
SYNONYM | H5 |
SYNONYM | MART |
SYNONYM | PNUTL2 |
SYNONYM | SEP4 |
SYNONYM | SEPT4 |
SYNONYM | Septin-4 |
SYNONYM | hCDCREL-2 |
SYNONYM | hucep-7 |
MIM | 603696 OMIM |
HGNC | HGNC:9165 HGNC |
Ensembl | ENSG00000108387 Ensembl |
AllianceGenome | HGNC:9165 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000580809.5 | hg38 | chr17 | 58,521,549 | 58,532,054 | 10,506 |
ENST00000672673.2 | hg38 | chr17 | 58,520,256 | 58,544,328 | 24,073 |
ENST00000317256.10 | hg38 | chr17 | 58,520,359 | 58,532,046 | 11,688 |
ENST00000426861.5 | hg38 | chr17 | 58,520,255 | 58,532,050 | 11,796 |
ENST00000412945.7 | hg38 | chr17 | 58,520,359 | 58,540,818 | 20,460 |
ENST00000583114.5 | hg38 | chr17 | 58,520,250 | 58,527,981 | 7,732 |
ENST00000321691.3 | hg38 | chr17 | 58,541,587 | 58,544,368 | 2,782 |
ENST00000672699.1 | hg38 | chr17 | 58,520,258 | 58,540,818 | 20,561 |
ENST00000580844.5 | hg38 | chr17 | 58,520,299 | 58,529,303 | 9,005 |
ENST00000579371.5 | hg38 | chr17 | 58,520,256 | 58,529,279 | 9,024 |
ENST00000457347.6 | hg38 | chr17 | 58,520,258 | 58,540,818 | 20,561 |
ENST00000317268.7 | hg38 | chr17 | 58,520,256 | 58,529,351 | 9,096 |
ENST00000393086.5 | hg38 | chr17 | 58,520,250 | 58,527,144 | 6,895 |
ENST00000393086.5 | hg19 | chr17 | 56,597,611 | 56,604,505 | 6,895 |
ENST00000426861.5 | hg19 | chr17 | 56,597,616 | 56,609,411 | 11,796 |
ENST00000580809.5 | hg19 | chr17 | 56,598,910 | 56,609,415 | 10,506 |
ENST00000321691.3 | hg19 | chr17 | 56,618,948 | 56,621,729 | 2,782 |
ENST00000579371.5 | hg19 | chr17 | 56,597,617 | 56,606,640 | 9,024 |
ENST00000317268.7 | hg19 | chr17 | 56,597,617 | 56,606,712 | 9,096 |
ENST00000457347.6 | hg19 | chr17 | 56,597,619 | 56,618,179 | 20,561 |
ENST00000317256.10 | hg19 | chr17 | 56,597,720 | 56,609,407 | 11,688 |
ENST00000412945.7 | hg19 | chr17 | 56,597,720 | 56,618,179 | 20,460 |
ENST00000580844.5 | hg19 | chr17 | 56,597,660 | 56,606,664 | 9,005 |
ENST00000583114.5 | hg19 | chr17 | 56,597,611 | 56,605,342 | 7,732 |
ENST00000672673.2 | hg19 | chr17 | 56,597,617 | 56,621,689 | 24,073 |
ENST00000672699.1 | hg19 | chr17 | 56,597,619 | 56,618,179 | 20,561 |
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