ANXA5 annexin A5
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Benign | 0 | 4 |
Likely benign | 0 | 6 |
no classification for the single variant | 0 | 2 |
Uncertain significance | 0 | 40 |
Ranking
ClinVar | |
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0 |
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0 |
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0 |
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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
[No Data.]
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 | ANX5 |
SYNONYM | CPB-I |
SYNONYM | ENX2 |
SYNONYM | HEL-S-7 |
SYNONYM | PP4 |
SYNONYM | RPRGL3 |
SYNONYM | VAC-alph |
MIM | 131230 OMIM |
HGNC | HGNC:543 HGNC |
Ensembl | ENSG00000164111 Ensembl |
AllianceGenome | HGNC:543 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000515017.5 | hg38 | chr4 | 121,668,076 | 121,696,962 | 28,887 |
ENST00000501272.6 | hg38 | chr4 | 121,668,027 | 121,696,966 | 28,940 |
ENST00000296511.10 | hg38 | chr4 | 121,667,946 | 121,696,980 | 29,035 |
ENST00000296511.10 | hg19 | chr4 | 122,589,101 | 122,618,135 | 29,035 |
ENST00000501272.6 | hg19 | chr4 | 122,589,182 | 122,618,121 | 28,940 |
ENST00000515017.5 | hg19 | chr4 | 122,589,231 | 122,618,117 | 28,887 |
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