ZNHIT3 zinc finger HIT-type containing 3
Information
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Likely pathogenic | 0 | 2 |
Benign | 0 | 6 |
Likely benign | 0 | 14 |
not provided | 1 | 0 |
Uncertain significance | 0 | 34 |
Ranking
ClinVar | |
---|---|
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0 |
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0 |
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4 |
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50 |
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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 |
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SYNONYM | Hit1 |
SYNONYM | PEHO |
SYNONYM | TRIP3 |
MIM | 604500 OMIM |
HGNC | HGNC:12309 HGNC |
Ensembl | ENSG00000273611 Ensembl |
AllianceGenome | HGNC:12309 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000617429.5 | hg38 | chr17 | 36,486,681 | 36,495,822 | 9,142 |
ENST00000619730.4 | hg38 | chr17 | 36,486,629 | 36,495,823 | 9,195 |
ENST00000620324.4 | hg38 | chr17 | 36,486,695 | 36,498,148 | 11,454 |
ENST00000619730.4 | hg19 | chr17 | 34,842,473 | 34,851,667 | 9,195 |
ENST00000617429.5 | hg19 | chr17 | 34,842,525 | 34,851,666 | 9,142 |
ENST00000620324.4 | hg19 | chr17 | 34,842,539 | 34,853,992 | 11,454 |
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