ANKRD1 ankyrin repeat domain 1
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Pathogenic | 2 | 0 |
Benign | 0 | 72 |
Likely benign | 0 | 264 |
Conflicting classifications of pathogenicity | 0 | 56 |
Uncertain significance | 0 | 524 |
Ranking
ClinVar | |
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0 |
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0 |
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252 |
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564 |
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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
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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 | ALRP |
SYNONYM | C-193 |
SYNONYM | CARP |
SYNONYM | CVARP |
SYNONYM | MCARP |
SYNONYM | bA320F15.2 |
MIM | 609599 OMIM |
HGNC | HGNC:15819 HGNC |
Ensembl | ENSG00000148677 Ensembl |
AllianceGenome | HGNC:15819 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
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ENST00000371697.4 | hg38 | chr10 | 90,912,096 | 90,921,087 | 8,992 |
ENST00000371697.4 | hg19 | chr10 | 92,671,853 | 92,680,844 | 8,992 |
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