TMEM147 transmembrane protein 147
Information
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Pathogenic | 0 | 22 |
Benign | 0 | 2 |
Likely benign | 0 | 6 |
Conflicting classifications of pathogenicity | 0 | 2 |
Uncertain significance | 0 | 34 |
Ranking
ClinVar | |
---|---|
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0 |
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0 |
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4 |
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60 |
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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
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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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 | NEDFLPH |
SYNONYM | NIFIE14 |
MIM | 613585 OMIM |
HGNC | HGNC:30414 HGNC |
Ensembl | ENSG00000105677 Ensembl |
AllianceGenome | HGNC:30414 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
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ENST00000392205.2 | hg38 | chr19 | 35,545,681 | 35,547,397 | 1,717 |
ENST00000392204.6 | hg38 | chr19 | 35,545,630 | 35,547,526 | 1,897 |
ENST00000222284.10 | hg38 | chr19 | 35,545,626 | 35,547,526 | 1,901 |
ENST00000222284.10 | hg19 | chr19 | 36,036,528 | 36,038,428 | 1,901 |
ENST00000392204.6 | hg19 | chr19 | 36,036,532 | 36,038,428 | 1,897 |
ENST00000392205.2 | hg19 | chr19 | 36,036,583 | 36,038,299 | 1,717 |
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