EMC10 ER membrane protein complex subunit 10
Information
- Symbol
- EMC10
- Type
- protein-coding
- Description
- ER membrane protein complex subunit 10
- Entrez Gene ID
- 284361
- Genome
- hg19
- Position
- chr19:50,979,764-50,994,128
- Genome
- hg38
- Position
- chr19:50,476,507-50,490,871
- MIM
- 614545 OMIM
- HGNC
- HGNC:27609 HGNC
- Ensembl
- ENSG00000161671 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Pathogenic | 6 | 16 |
Likely pathogenic | 0 | 6 |
Benign | 0 | 4 |
Likely benign | 0 | 30 |
Conflicting classifications of pathogenicity | 0 | 2 |
Uncertain significance | 0 | 38 |
Ranking
ClinVar | |
---|---|
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0 |
![]() |
0 |
![]() |
6 |
![]() |
72 |
![]() |
12 |
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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Category | : |
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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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Category | : |
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Search word | : | |
Filtering | : |
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 | |||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Entry | Origin | Type | Annotation |
Type | ID |
---|---|
SYNONYM | C19orf63 |
SYNONYM | HSM1 |
SYNONYM | HSS1 |
SYNONYM | NEDDFAS |
MIM | 614545 OMIM |
HGNC | HGNC:27609 HGNC |
Ensembl | ENSG00000161671 Ensembl |
AllianceGenome | HGNC:27609 |
Descrption | Source | Links |
---|
ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000334976.11 | hg38 | chr19 | 50,476,507 | 50,490,871 | 14,365 |
ENST00000376918.7 | hg38 | chr19 | 50,476,499 | 50,483,351 | 6,853 |
ENST00000598585.1 | hg38 | chr19 | 50,476,521 | 50,483,198 | 6,678 |
ENST00000376918.7 | hg19 | chr19 | 50,979,756 | 50,986,608 | 6,853 |
ENST00000334976.11 | hg19 | chr19 | 50,979,764 | 50,994,128 | 14,365 |
ENST00000598585.1 | hg19 | chr19 | 50,979,778 | 50,986,455 | 6,678 |
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