TMEM107 transmembrane protein 107
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Pathogenic | 0 | 58 |
Likely pathogenic | 0 | 14 |
Benign | 0 | 78 |
Likely benign | 0 | 122 |
Conflicting classifications of pathogenicity | 0 | 24 |
not provided | 1 | 0 |
Uncertain significance | 0 | 284 |
Ranking
ClinVar | |
---|---|
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0 |
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0 |
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72 |
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416 |
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42 |
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
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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 | GRVS638 |
SYNONYM | JBTS29 |
SYNONYM | MKS13 |
SYNONYM | PRO1268 |
MIM | 616183 OMIM |
HGNC | HGNC:28128 HGNC |
Ensembl | ENSG00000179029 Ensembl |
AllianceGenome | HGNC:28128 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000316425.9 | hg38 | chr17 | 8,174,001 | 8,176,399 | 2,399 |
ENST00000449985.6 | hg38 | chr17 | 8,173,237 | 8,176,373 | 3,137 |
ENST00000437139.7 | hg38 | chr17 | 8,172,457 | 8,176,380 | 3,924 |
ENST00000532998.5 | hg38 | chr17 | 8,173,742 | 8,176,373 | 2,632 |
ENST00000533070.5 | hg38 | chr17 | 8,173,999 | 8,176,388 | 2,390 |
ENST00000431792.2 | hg38 | chr17 | 8,174,003 | 8,176,316 | 2,314 |
ENST00000437139.7 | hg19 | chr17 | 8,075,775 | 8,079,698 | 3,924 |
ENST00000449985.6 | hg19 | chr17 | 8,076,555 | 8,079,691 | 3,137 |
ENST00000532998.5 | hg19 | chr17 | 8,077,060 | 8,079,691 | 2,632 |
ENST00000533070.5 | hg19 | chr17 | 8,077,317 | 8,079,706 | 2,390 |
ENST00000316425.9 | hg19 | chr17 | 8,077,319 | 8,079,717 | 2,399 |
ENST00000431792.2 | hg19 | chr17 | 8,077,321 | 8,079,634 | 2,314 |
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