NRM nurim
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Likely benign | 0 | 6 |
not provided | 4 | 0 |
Uncertain significance | 0 | 26 |
Ranking
ClinVar | |
---|---|
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0 |
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0 |
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0 |
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32 |
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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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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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Name | MGeND | Type | Genome | Size | Chromosome | Start | Stop | Ref | Alt | ClinVar | Origin | Entry | CIViC evidence | DisGeNET entry | |||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
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 | NRM29 |
MIM | 620017 OMIM |
HGNC | HGNC:8003 HGNC |
Ensembl | ENSG00000137404 Ensembl |
AllianceGenome | HGNC:8003 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000376420.9 | hg38 | chr6 | 30,688,047 | 30,690,976 | 2,930 |
ENST00000376421.7 | hg38 | chr6 | 30,688,049 | 30,690,984 | 2,936 |
ENST00000259953.8 | hg38 | chr6 | 30,688,047 | 30,691,420 | 3,374 |
ENST00000376420.9 | hg19 | chr6 | 30,655,824 | 30,658,753 | 2,930 |
ENST00000259953.8 | hg19 | chr6 | 30,655,824 | 30,659,197 | 3,374 |
ENST00000376421.7 | hg19 | chr6 | 30,655,826 | 30,658,761 | 2,936 |
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