KRT75 keratin 75
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Benign | 0 | 16 |
Likely benign | 0 | 16 |
Uncertain significance | 0 | 90 |
Ranking
ClinVar | |
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0 |
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0 |
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2 |
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118 |
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2 |
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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Variant name | Gene | AA change | CDS | Japanese frequency |
TogoVar | MGeND | Genome | ClinVar | CIViC evidence | DisGeNET entry | COSMIC occurrence |
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Entry | Origin | Type | Annotation | Entry | Origin | Annotation |
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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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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 | CK-75 |
SYNONYM | K6HF |
SYNONYM | K75 |
SYNONYM | KB18 |
SYNONYM | PFB |
SYNONYM | hK6hf |
MIM | 609025 OMIM |
HGNC | HGNC:24431 HGNC |
Ensembl | ENSG00000170454 Ensembl |
AllianceGenome | HGNC:24431 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
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ENST00000252245.6 | hg38 | chr12 | 52,424,070 | 52,434,371 | 10,302 |
ENST00000252245.6 | hg19 | chr12 | 52,817,854 | 52,828,155 | 10,302 |
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