PHOX2A paired like homeobox 2A
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Pathogenic | 0 | 4 |
Benign | 0 | 4 |
Likely benign | 0 | 8 |
Uncertain significance | 0 | 28 |
Ranking
ClinVar | |
---|---|
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0 |
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0 |
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2 |
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38 |
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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
[No Data.]
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 |
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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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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 | ARIX |
SYNONYM | CFEOM2 |
SYNONYM | FEOM2 |
SYNONYM | NCAM2 |
SYNONYM | PMX2A |
MIM | 602753 OMIM |
HGNC | HGNC:691 HGNC |
Ensembl | ENSG00000165462 Ensembl |
AllianceGenome | HGNC:691 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000298231.5 | hg38 | chr11 | 72,239,077 | 72,244,176 | 5,100 |
ENST00000298231.5 | hg19 | chr11 | 71,950,121 | 71,955,220 | 5,100 |
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