CLEC7A C-type lectin domain containing 7A
Information
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Benign | 4 | 12 |
Likely benign | 0 | 14 |
Uncertain significance | 0 | 28 |
Ranking
ClinVar | |
---|---|
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0 |
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0 |
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10 |
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38 |
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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 |
---|---|
SYNONYM | BGR |
SYNONYM | CANDF4 |
SYNONYM | CD369 |
SYNONYM | CLECSF12 |
SYNONYM | DECTIN1 |
SYNONYM | SCARE2 |
MIM | 606264 OMIM |
HGNC | HGNC:14558 HGNC |
Ensembl | ENSG00000172243 Ensembl |
AllianceGenome | HGNC:14558 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000396484.6 | hg38 | chr12 | 10,118,068 | 10,130,185 | 12,118 |
ENST00000298523.9 | hg38 | chr12 | 10,117,862 | 10,130,153 | 12,292 |
ENST00000304084.13 | hg38 | chr12 | 10,116,777 | 10,130,199 | 13,423 |
ENST00000533022.5 | hg38 | chr12 | 10,118,458 | 10,130,082 | 11,625 |
ENST00000310002.4 | hg38 | chr12 | 10,127,327 | 10,130,189 | 2,863 |
ENST00000353231.9 | hg38 | chr12 | 10,116,777 | 10,130,241 | 13,465 |
ENST00000525605.1 | hg38 | chr12 | 10,127,446 | 10,130,257 | 2,812 |
ENST00000304084.13 | hg19 | chr12 | 10,269,376 | 10,282,798 | 13,423 |
ENST00000353231.9 | hg19 | chr12 | 10,269,376 | 10,282,840 | 13,465 |
ENST00000298523.9 | hg19 | chr12 | 10,270,461 | 10,282,752 | 12,292 |
ENST00000396484.6 | hg19 | chr12 | 10,270,667 | 10,282,784 | 12,118 |
ENST00000533022.5 | hg19 | chr12 | 10,271,057 | 10,282,681 | 11,625 |
ENST00000310002.4 | hg19 | chr12 | 10,279,926 | 10,282,788 | 2,863 |
ENST00000525605.1 | hg19 | chr12 | 10,280,045 | 10,282,856 | 2,812 |
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