SEC24D SEC24 homolog D, COPII coat complex component
Information
- Symbol
- SEC24D
- Type
- protein-coding
- Description
- SEC24 homolog D, COPII coat complex component
- Entrez Gene ID
- 9871
- Genome
- hg19
- Position
- chr4:119,643,978-119,757,281
- Genome
- hg38
- Position
- chr4:118,722,823-118,836,126
- MIM
- 607186 OMIM
- HGNC
- HGNC:10706 HGNC
- Ensembl
- ENSG00000150961 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Pathogenic | 4 | 36 |
Likely pathogenic | 2 | 24 |
Benign | 0 | 156 |
Likely benign | 0 | 376 |
Conflicting classifications of pathogenicity | 0 | 10 |
Uncertain significance | 0 | 326 |
Ranking
ClinVar | |
---|---|
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0 |
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0 |
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114 |
![]() |
758 |
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16 |
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 | CLCRP2 |
MIM | 607186 OMIM |
HGNC | HGNC:10706 HGNC |
Ensembl | ENSG00000150961 Ensembl |
AllianceGenome | HGNC:10706 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000280551.11 | hg38 | chr4 | 118,722,823 | 118,836,126 | 113,304 |
ENST00000419654.6 | hg38 | chr4 | 118,736,552 | 118,836,171 | 99,620 |
ENST00000511481.5 | hg38 | chr4 | 118,723,024 | 118,769,840 | 46,817 |
ENST00000280551.11 | hg19 | chr4 | 119,643,978 | 119,757,281 | 113,304 |
ENST00000511481.5 | hg19 | chr4 | 119,644,179 | 119,690,995 | 46,817 |
ENST00000419654.6 | hg19 | chr4 | 119,657,707 | 119,757,326 | 99,620 |
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