MYO1C myosin IC
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Benign | 0 | 200 |
Likely benign | 0 | 150 |
Conflicting classifications of pathogenicity | 0 | 2 |
Uncertain significance | 0 | 152 |
Ranking
ClinVar | |
---|---|
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0 |
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0 |
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36 |
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452 |
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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
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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 |
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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 |
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Target data | : |
MGeND data only
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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 | MMI-beta |
SYNONYM | MMIb |
SYNONYM | MyoIC |
SYNONYM | NMI |
SYNONYM | myr2 |
MIM | 606538 OMIM |
HGNC | HGNC:7597 HGNC |
Ensembl | ENSG00000197879 Ensembl |
AllianceGenome | HGNC:7597 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000570984.7 | hg38 | chr17 | 1,465,017 | 1,492,040 | 27,024 |
ENST00000648446.1 | hg38 | chr17 | 1,464,186 | 1,485,760 | 21,575 |
ENST00000648651.1 | hg38 | chr17 | 1,464,186 | 1,492,686 | 28,501 |
ENST00000575158.5 | hg38 | chr17 | 1,464,186 | 1,486,201 | 22,016 |
ENST00000361007.7 | hg38 | chr17 | 1,464,212 | 1,491,682 | 27,471 |
ENST00000646049.1 | hg38 | chr17 | 1,464,842 | 1,491,610 | 26,769 |
ENST00000545534.6 | hg38 | chr17 | 1,465,413 | 1,485,367 | 19,955 |
ENST00000575158.5 | hg19 | chr17 | 1,367,480 | 1,389,495 | 22,016 |
ENST00000361007.7 | hg19 | chr17 | 1,367,506 | 1,394,976 | 27,471 |
ENST00000545534.6 | hg19 | chr17 | 1,368,707 | 1,388,661 | 19,955 |
ENST00000570984.7 | hg19 | chr17 | 1,368,311 | 1,395,334 | 27,024 |
ENST00000646049.1 | hg19 | chr17 | 1,368,136 | 1,394,904 | 26,769 |
ENST00000648446.1 | hg19 | chr17 | 1,367,480 | 1,389,054 | 21,575 |
ENST00000648651.1 | hg19 | chr17 | 1,367,480 | 1,395,980 | 28,501 |
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