WASHC4 WASH complex subunit 4
Information
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Pathogenic | 0 | 6 |
Likely pathogenic | 0 | 10 |
Benign | 0 | 28 |
Likely benign | 0 | 64 |
Conflicting classifications of pathogenicity | 0 | 16 |
not provided | 1 | 0 |
Uncertain significance | 0 | 164 |
Ranking
ClinVar | |
---|---|
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0 |
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0 |
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26 |
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232 |
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8 |
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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Category | : |
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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 | KIAA1033 |
SYNONYM | MRT43 |
SYNONYM | SWIP |
MIM | 615748 OMIM |
HGNC | HGNC:29174 HGNC |
Ensembl | ENSG00000136051 Ensembl |
AllianceGenome | HGNC:29174 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000620430.5 | hg38 | chr12 | 105,107,772 | 105,167,000 | 59,229 |
ENST00000332180.10 | hg38 | chr12 | 105,107,731 | 105,169,130 | 61,400 |
ENST00000332180.10 | hg19 | chr12 | 105,501,509 | 105,562,908 | 61,400 |
ENST00000620430.5 | hg19 | chr12 | 105,501,550 | 105,560,778 | 59,229 |
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