SUMF2 sulfatase modifying factor 2
Information
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Pathogenic | 0 | 2 |
Benign | 0 | 8 |
Likely benign | 0 | 12 |
not provided | 1 | 0 |
Uncertain significance | 0 | 70 |
Ranking
ClinVar | |
---|---|
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0 |
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0 |
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4 |
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86 |
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2 |
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 | pFGE |
MIM | 607940 OMIM |
HGNC | HGNC:20415 HGNC |
Ensembl | ENSG00000129103 Ensembl |
AllianceGenome | HGNC:20415 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
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ENST00000395435.7 | hg38 | chr7 | 56,064,254 | 56,080,187 | 15,934 |
ENST00000395436.7 | hg38 | chr7 | 56,064,002 | 56,080,124 | 16,123 |
ENST00000651586.1 | hg38 | chr7 | 56,064,224 | 56,080,669 | 16,446 |
ENST00000342190.11 | hg38 | chr7 | 56,064,255 | 56,080,670 | 16,416 |
ENST00000413756.5 | hg38 | chr7 | 56,064,289 | 56,079,736 | 15,448 |
ENST00000652303.1 | hg38 | chr7 | 56,064,224 | 56,080,669 | 16,446 |
ENST00000434526.8 | hg38 | chr7 | 56,064,286 | 56,080,670 | 16,385 |
ENST00000650735.1 | hg38 | chr7 | 56,064,224 | 56,080,669 | 16,446 |
ENST00000651354.1 | hg38 | chr7 | 56,064,224 | 56,080,669 | 16,446 |
ENST00000437307.6 | hg38 | chr7 | 56,064,284 | 56,079,832 | 15,549 |
ENST00000275607.13 | hg38 | chr7 | 56,064,224 | 56,080,669 | 16,446 |
ENST00000395436.7 | hg19 | chr7 | 56,131,695 | 56,147,817 | 16,123 |
ENST00000275607.13 | hg19 | chr7 | 56,131,917 | 56,148,362 | 16,446 |
ENST00000395435.7 | hg19 | chr7 | 56,131,947 | 56,147,880 | 15,934 |
ENST00000342190.11 | hg19 | chr7 | 56,131,948 | 56,148,363 | 16,416 |
ENST00000437307.6 | hg19 | chr7 | 56,131,977 | 56,147,525 | 15,549 |
ENST00000434526.8 | hg19 | chr7 | 56,131,979 | 56,148,363 | 16,385 |
ENST00000413756.5 | hg19 | chr7 | 56,131,982 | 56,147,429 | 15,448 |
ENST00000650735.1 | hg19 | chr7 | 56,131,917 | 56,148,362 | 16,446 |
ENST00000652303.1 | hg19 | chr7 | 56,131,917 | 56,148,362 | 16,446 |
ENST00000651586.1 | hg19 | chr7 | 56,131,917 | 56,148,362 | 16,446 |
ENST00000651354.1 | hg19 | chr7 | 56,131,917 | 56,148,362 | 16,446 |
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