KRTAP1-3 keratin associated protein 1-3
Information
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Benign | 0 | 4 |
Likely benign | 0 | 6 |
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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36 |
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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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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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Category | : |
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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 | KAP1.2 |
SYNONYM | KAP1.3 |
SYNONYM | KAP1.6 |
SYNONYM | KAP1.8A |
SYNONYM | KAP1.8B |
SYNONYM | KAP1.9 |
SYNONYM | KRTAP1.3 |
MIM | 608820 OMIM |
HGNC | HGNC:16771 HGNC |
Ensembl | ENSG00000221880 Ensembl |
AllianceGenome | HGNC:16771 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000344363.7 | hg38 | chr17 | 41,033,884 | 41,034,874 | 991 |
ENST00000344363.7 | hg19 | chr17 | 39,190,136 | 39,191,126 | 991 |
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