GCNA germ cell nuclear acidic peptidase
Information
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Pathogenic | 0 | 4 |
Likely pathogenic | 0 | 2 |
Likely benign | 0 | 14 |
Conflicting classifications of pathogenicity | 0 | 2 |
not provided | 6 | 0 |
Uncertain significance | 0 | 76 |
Ranking
ClinVar | |
---|---|
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0 |
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0 |
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2 |
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90 |
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4 |
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 | ACRC |
SYNONYM | NAAR1 |
SYNONYM | SPGFX4 |
MIM | 300369 OMIM |
HGNC | HGNC:15805 HGNC |
Ensembl | ENSG00000147174 Ensembl |
AllianceGenome | HGNC:15805 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000373696.8 | hg38 | chrX | 71,578,437 | 71,613,583 | 35,147 |
ENST00000373695.1 | hg38 | chrX | 71,580,285 | 71,613,582 | 33,298 |
ENST00000373696.8 | hg19 | chrX | 70,798,287 | 70,833,433 | 35,147 |
ENST00000373695.1 | hg19 | chrX | 70,800,135 | 70,833,432 | 33,298 |
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