LMNTD1 lamin tail domain containing 1
Information
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Likely benign | 0 | 4 |
not provided | 1 | 0 |
Uncertain significance | 0 | 40 |
Ranking
ClinVar | |
---|---|
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0 |
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0 |
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0 |
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44 |
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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 | IFLTD1 |
SYNONYM | LMNARS1 |
SYNONYM | PAS1C1 |
MIM | 617254 OMIM |
HGNC | HGNC:26683 HGNC |
Ensembl | ENSG00000152936 Ensembl |
AllianceGenome | HGNC:26683 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000539744.5 | hg38 | chr12 | 25,476,110 | 25,553,252 | 77,143 |
ENST00000458174.7 | hg38 | chr12 | 25,476,082 | 25,553,283 | 77,202 |
ENST00000445693.5 | hg38 | chr12 | 25,497,513 | 25,648,554 | 151,042 |
ENST00000282881.10 | hg38 | chr12 | 25,476,082 | 25,553,244 | 77,163 |
ENST00000413632.6 | hg38 | chr12 | 25,499,852 | 25,553,281 | 53,430 |
ENST00000282881.10 | hg19 | chr12 | 25,629,016 | 25,706,178 | 77,163 |
ENST00000458174.7 | hg19 | chr12 | 25,629,016 | 25,706,217 | 77,202 |
ENST00000539744.5 | hg19 | chr12 | 25,629,044 | 25,706,186 | 77,143 |
ENST00000445693.5 | hg19 | chr12 | 25,650,447 | 25,801,488 | 151,042 |
ENST00000413632.6 | hg19 | chr12 | 25,652,786 | 25,706,215 | 53,430 |
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